A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
Membrane glycoproteins consisting of an alpha subunit and a BETA 2-MICROGLOBULIN beta subunit. In humans, highly polymorphic genes on CHROMOSOME 6 encode the alpha subunits of class I antigens and play an important role in determining the serological specificity of the surface antigen. Class I antigens are found on most nucleated cells and are generally detected by their reactivity with alloantisera. These antigens are recognized during GRAFT REJECTION and restrict cell-mediated lysis of virus-infected cells.
The techniques used to draw blood from a vein for diagnostic purposes or for treatment of certain blood disorders such as erythrocytosis, hemochromatosis, polycythemia vera, and porphyria cutanea tarda.
An iron-binding beta1-globulin that is synthesized in the LIVER and secreted into the blood. It plays a central role in the transport of IRON throughout the circulation. A variety of transferrin isoforms exist in humans, including some that are considered markers for specific disease states.
Forms of hepcidin, a cationic amphipathic peptide synthesized in the liver as a prepropeptide which is first processed into prohepcidin and then into the biologically active hepcidin forms, including in human the 20-, 22-, and 25-amino acid residue peptide forms. Hepcidin acts as a homeostatic regulators of iron metabolism and also possesses antimicrobial activity.
Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types.
Membrane glycoproteins found in high concentrations on iron-utilizing cells. They specifically bind iron-bearing transferrin, are endocytosed with its ligand and then returned to the cell surface where transferrin without its iron is released.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.
Small cationic peptides that are an important component, in most species, of early innate and induced defenses against invading microbes. In animals they are found on mucosal surfaces, within phagocytic granules, and on the surface of the body. They are also found in insects and plants. Among others, this group includes the DEFENSINS, protegrins, tachyplesins, and thionins. They displace DIVALENT CATIONS from phosphate groups of MEMBRANE LIPIDS leading to disruption of the membrane.
An individual in which both alleles at a given locus are identical.
Therapy of heavy metal poisoning using agents which sequester the metal from organs or tissues and bind it firmly within the ring structure of a new compound which can be eliminated from the body.
An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form.
Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)
Membrane proteins whose primary function is to facilitate the transport of positively charged molecules (cations) across a biological membrane.
Conditions in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the MONONUCLEAR PHAGOCYTE SYSTEM, without demonstrable tissue damage. The name refers to the presence of stainable iron in the tissue in the form of hemosiderin.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Unstable isotopes of iron that decay or disintegrate emitting radiation. Fe atoms with atomic weights 52, 53, 55, and 59-61 are radioactive iron isotopes.
An individual having different alleles at one or more loci regarding a specific character.
A body of stories, the origins of which may be unknown or forgotten, that serve to explain practices, beliefs, institutions or natural phenomena. Mythology includes legends and folk tales. It may refer to classical mythology or to a body of modern thought and modern life. (From Webster's 1st ed)
Separation of one or more kinds of cells from whole blood with the return of other blood cell constituents to the patient or donor. This is accomplished with an instrument that uses centrifugation to separate the cells into different layers based on the differences in cell density (displacement) or drag coefficients in a current (elutriation). The procedure is commonly used in adoptive transfer to isolate NK cells, lymphocytes, or monocytes.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Iron or iron compounds used in foods or as food. Dietary iron is important in oxygen transport and the synthesis of the iron-porphyrin proteins hemoglobin, myoglobin, cytochromes, and cytochrome oxidase. Insufficient amounts of dietary iron can lead to iron-deficiency anemia.
Proteins that specifically bind to IRON.
Organic chemicals that form two or more coordination links with an iron ion. Once coordination has occurred, the complex formed is called a chelate. The iron-binding porphyrin group of hemoglobin is an example of a metal chelate found in biological systems.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
A subclass of lipid-linked proteins that contain a GLYCOSYLPHOSPHATIDYLINOSITOL LINKAGE which holds them to the CELL MEMBRANE.
Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts.
Inborn errors of metal metabolism refer to genetic disorders resulting from mutations in genes encoding proteins involved in the transportation, storage, or utilization of essential metals, leading to imbalances that can cause toxicity or deficiency and subsequent impairment of normal physiological processes.
Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.
Natural product isolated from Streptomyces pilosus. It forms iron complexes and is used as a chelating agent, particularly in the mesylate form.
An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. It is the small subunit of the MHC class I molecule. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants.
Pathological processes of the LIVER.
Mononuclear cells with pronounced phagocytic ability that are distributed extensively in lymphoid and other organs. It includes MACROPHAGES and their precursors; PHAGOCYTES; KUPFFER CELLS; HISTIOCYTES; DENDRITIC CELLS; LANGERHANS CELLS; and MICROGLIA. The term mononuclear phagocyte system has replaced the former reticuloendothelial system, which also included less active phagocytic cells such as fibroblasts and endothelial cells. (From Illustrated Dictionary of Immunology, 2d ed.)
A bone morphogenetic protein that is a potent inducer of BONE formation. It plays additional roles in regulating CELL DIFFERENTIATION of non-osteoblastic cell types and epithelial-mesenchymal interactions.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
The shortest and widest portion of the SMALL INTESTINE adjacent to the PYLORUS of the STOMACH. It is named for having the length equal to about the width of 12 fingers.
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
An enzyme that catalyzes the decarboxylation of UROPORPHYRINOGEN III to coproporphyrinogen III by the conversion of four acetate groups to four methyl groups. It is the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME. Several forms of cutaneous PORPHYRIAS are results of this enzyme deficiency as in PORPHYRIA CUTANEA TARDA; and HEPATOERYTHROPOIETIC PORPHYRIA.
Puncture of a vein to draw blood for therapeutic purposes. Bloodletting therapy has been used in Talmudic and Indian medicine since the medieval time, and was still practiced widely in the 18th and 19th centuries. Its modern counterpart is PHLEBOTOMY.
A form of pneumoconiosis resulting from inhalation of iron in the mining dust or welding fumes.

Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. (1/803)

Juvenile haemochromatosis is a rare inborn error of iron metabolism with clinical manifestations before 30 years of age. Unlike adult haemochromatosis which principally affects men, juvenile haemochromatosis affects the sexes equally; it causes early endocrine failure, dilated cardiomyopathy and joint disease. We report four patients (two of each sex) from three pedigrees affected by juvenile haemochromatosis with a mean onset at 22 years (range 14-30). All had endocrine deficiency with postpubertal gonadal failure secondary to pituitary disease; two suffered near-fatal cardiomyopathy with heart failure. Mean time to diagnosis from the first clinical signs of disease was 9.8 years (range 0.5-20) but general health and parameters of iron storage responded favourably to iron-depletion therapy. A 24-year-old man listed for heart transplantation because of cardiomyopathy [left ventricular (LV) ejection fraction 16%] responded to intravenous iron chelation with desferrioxamine combined with phlebotomy (ejection fraction 31%). A 27-year-old woman with subacute biventricular heart failure refractory to medication required orthotopic cardiac transplantation before the diagnosis was established (LV ejection fraction 25%). Genetic studies showed that these two patients with cardiomyopathy from unrelated families were heterozygous for the HFE 845G-->A (C282Y) mutation and wild-type at the H63D locus: complete sequencing of the intron-exon boundaries and entire coding sequence of the HFE gene failed to identify additional lesions. Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p. Juvenile haemochromatosis is thus a genetically heterogenous disorder distinct from the common adult variant.  (+info)

Oval cell numbers in human chronic liver diseases are directly related to disease severity. (2/803)

The risk of developing hepatocellular carcinoma is significantly increased in patients with genetic hemochromatosis, alcoholic liver disease, or chronic hepatitis C infection. The precise mechanisms underlying the development of hepatocellular carcinoma in these conditions are not well understood. Stem cells within the liver, termed oval cells, are involved in the pathogenesis of hepatocellular carcinoma in animal models and may be important in the development of hepatocellular carcinoma in human chronic liver diseases. The aims of this study were to determine whether oval cells could be detected in the liver of patients with genetic hemochromatosis, alcoholic liver disease, or chronic hepatitis C, and whether there is a relationship between the severity of the liver disease and the number of oval cells. Oval cells were detected using histology and immunohistochemistry in liver biopsies from patients with genetic hemochromatosis, alcoholic liver disease, or chronic hepatitis C. Oval cells were not observed in normal liver controls. Oval cell numbers increased significantly with the progression of disease severity from mild to severe in each of the diseases studied. We conclude that oval cells are frequently found in subjects with genetic hemochromatosis, alcoholic liver disease, or chronic hepatitis C. There is an association between severity of liver disease and increase in the number of oval cells consistent with the hypothesis that oval cell proliferation is associated with increased risk for development of hepatocellular carcinoma in chronic liver disease.  (+info)

Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. (3/803)

X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinically pyridoxine-responsive. The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather. There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder. One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness. Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation. The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine. These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia.  (+info)

Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. (4/803)

Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iron deposition secondary to excessive dietary iron absorption. We recently reported that HFE, the protein defective in HH, was physically associated with the transferrin receptor (TfR) in duodenal crypt cells and proposed that mutations in HFE attenuate the uptake of transferrin-bound iron from plasma by duodenal crypt cells, leading to up-regulation of transporters for dietary iron. Here, we tested the hypothesis that HFE-/- mice have increased duodenal expression of the divalent metal transporter (DMT1). By 4 weeks of age, the HFE-/- mice demonstrated iron loading when compared with HFE+/+ littermates, with elevated transferrin saturations (68.4% vs. 49.8%) and elevated liver iron concentrations (985 micrograms vs. 381 micrograms). By using Northern blot analyses, we quantitated duodenal expression of both classes of DMT1 transcripts: one containing an iron responsive element (IRE), called DMT1(IRE), and one containing no IRE, called DMT1(non-IRE). The positive control for DMT1 up-regulation was a murine model of dietary iron deficiency that demonstrated greatly increased levels of duodenal DMT1(IRE) mRNA. HFE-/- mice also demonstrated an increase in duodenal DMT1(IRE) mRNA (average 7.7-fold), despite their elevated transferrin saturation and hepatic iron content. Duodenal expression of DMT1(non-IRE) was not increased, nor was hepatic expression of DMT1 increased. These data support the model for HH in which HFE mutations lead to inappropriately low crypt cell iron, with resultant stabilization of DMT1(IRE) mRNA, up-regulation of DMT1, and increased absorption of dietary iron.  (+info)

The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. (5/803)

HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prasss, C. E., Quintana, L., Starnes, S. M., Schatzman, R. C., Brunke, K. J., Drayna, D. T., Risch, N. J., Bacon, B. R., and Wolff, R. R. (1996) Nat. Genet. 13, 399-408). At the cell surface, HFE complexes with transferrin receptor (TfR), increasing the dissociation constant of transferrin (Tf) for its receptor 10-fold (Gross, C. N., Irrinki, A., Feder, J. N., and Enns, C. A. (1998) J. Biol. Chem. 273, 22068-22074; Feder, J. N., Penny, D. M., Irrinki, A., Lee, V. K., Lebron, J. A., Watson, N. , Tsuchihashi, Z., Sigal, E., Bjorkman, P. J., and Schatzman, R. C. (1998) Proc. Natl. Acad. Sci. U S A 95, 1472-1477). HFE does not remain at the cell surface, but traffics with TfR to Tf-positive internal compartments (Gross et al., 1998). Using a HeLa cell line in which the expression of HFE is controlled by tetracycline, we show that the expression of HFE reduces 55Fe uptake from Tf by 33% but does not affect the endocytic or exocytic rates of TfR cycling. Therefore, HFE appears to reduce cellular acquisition of iron from Tf within endocytic compartments. HFE specifically reduces iron uptake from Tf, as non-Tf-mediated iron uptake from Fe-nitrilotriacetic acid is not altered. These results explain the decreased ferritin levels seen in our HeLa cell system and demonstrate the specific control of HFE over the Tf-mediated pathway of iron uptake. These results also have implications for the understanding of cellular iron homeostasis in organs such as the liver, pancreas, heart, and spleen that are iron loaded in hereditary hemochromatotic individuals lacking functional HFE.  (+info)

Multicentric origin of hemochromatosis gene (HFE) mutations. (6/803)

Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry. In northwestern Europe, >80% of GH patients are homozygous for one mutation, the substitution of tyrosine for cysteine at position 282 (C282Y) in the unprocessed protein. In a proportion of GH patients, two mutations are present, C282Y and H63D. The clinical significance of this second mutation is such that it appears to predispose 1%-2% of compound heterozygotes to expression of the disease. The distribution of the two mutations differ, C282Y being limited to those of northwestern European ancestry and H63D being found at allele frequencies>5%, in Europe, in countries bordering the Mediterranean, in the Middle East, and in the Indian subcontinent. The C282Y mutation occurs on a haplotype that extends +info)

Iron overload in porphyria cutanea tarda. (7/803)

BACKGROUND AND OBJECTIVE: Porphyria cutanea tarda (PCT) is a disorder of porphyrin metabolism associated with decreased activity of uroporphyrinogen decarboxylase (URO-D) in the liver. The relevance of iron in the pathogenesis of PCT is well established: iron overload is one of the factors that trigger the clinical manifestations of the disease and iron depletion remains the cornerstone of therapy for PCT. A role for genetic hemochromatosis in the pathogenesis of iron overload in PCT has been hypothesized in the past but only after the recent identification of the genetic defect causing hemochromatosis has the nature of this association been partially elucidated. This review will outline current concepts of the pathophysiology of iron overload in PCT as well as recent contributions to the molecular epidemiology of hemochromatosis defects in PCT. EVIDENCE AND INFORMATION SOURCES: The authors of the present review have a long-standing interest in the pathogenesis, etiology and epidemiology of iron overload syndromes. Evidence from journal articles covered by the Science Citation Index(R) and Medline(R) has been reviewed and collated with personal data and experience. STATE OF THE ART AND PERPECTIVES: Mild to moderate iron overload plays a key role in the pathogenesis of PCT. The recent identification of genetic mutations of the hemochromatosis gene (HFE) in the majority of patients with PCT confirms previous hypotheses on the association between PCT and hemochromatosis, allows a step forward in the understanding of the pathophysiology of the disturbance of iron metabolism in the liver of PCT patients, and provides an easily detectable genetic marker which could have a useful clinical application. Besides the epidemiological relevance of the association between PCT and hemochromatosis, however, it remains to be fully understood how iron overload, and in particular the cellular modifications of the iron status secondary to hemochromatosis mutations, affect the activity of URO-D, and how the altered iron metabolism interacts with the other two common triggers for PCT and etiological agents for the associated liver disease: alcohol and hepatitis viruses. The availability of a genetic marker for hemochromatosis will allow some of these issues to be addressed by studying aspects of porphyrins and iron metabolism in liver samples obtained from patients with PCT, liver disease of different etiology and different HFE genotypes, and by in vitro studies on genotyped cells and tissues.  (+info)

HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. (8/803)

Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996. Two missense mutations have been described: C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes. We report here on the analysis of C282Y, H63D, and the 193A-->T substitution leading to the S65C missense substitution in a large series of probands and controls. The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation. In addition, our screening showed that the S65C substitution was significantly enriched in probands with at least one chromosome without an assigned mutation. This substitution accounted for 7.8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis.  (+info)

Hemochromatosis is a medical condition characterized by excessive absorption and accumulation of iron in the body, resulting in damage to various organs. It's often referred to as "iron overload" disorder. There are two main types: primary (hereditary) and secondary (acquired). Primary hemochromatosis is caused by genetic mutations that lead to increased intestinal iron absorption, while secondary hemochromatosis can be the result of various conditions such as multiple blood transfusions, chronic liver disease, or certain types of anemia.

In both cases, the excess iron gets stored in body tissues, particularly in the liver, heart, and pancreas, which can cause organ damage and lead to complications like cirrhosis, liver failure, diabetes, heart problems, and skin discoloration. Early diagnosis and treatment through regular phlebotomy (blood removal) or chelation therapy can help manage the condition and prevent severe complications.

Iron overload is a condition characterized by an excessive accumulation of iron in the body's tissues and organs, particularly in the liver, heart, and pancreas. This occurs when the body absorbs more iron than it can use or eliminate, leading to iron levels that are higher than normal.

Iron overload can result from various factors, including hereditary hemochromatosis, a genetic disorder that affects how the body absorbs iron from food; frequent blood transfusions, which can cause iron buildup in people with certain chronic diseases such as sickle cell anemia or thalassemia; and excessive consumption of iron supplements or iron-rich foods.

Symptoms of iron overload may include fatigue, joint pain, abdominal discomfort, irregular heartbeat, and liver dysfunction. If left untreated, it can lead to serious complications such as cirrhosis, liver failure, diabetes, heart problems, and even certain types of cancer. Treatment typically involves regular phlebotomy (removal of blood) to reduce iron levels in the body, along with dietary modifications and monitoring by a healthcare professional.

In the context of medicine, iron is an essential micromineral and key component of various proteins and enzymes. It plays a crucial role in oxygen transport, DNA synthesis, and energy production within the body. Iron exists in two main forms: heme and non-heme. Heme iron is derived from hemoglobin and myoglobin in animal products, while non-heme iron comes from plant sources and supplements.

The recommended daily allowance (RDA) for iron varies depending on age, sex, and life stage:

* For men aged 19-50 years, the RDA is 8 mg/day
* For women aged 19-50 years, the RDA is 18 mg/day
* During pregnancy, the RDA increases to 27 mg/day
* During lactation, the RDA for breastfeeding mothers is 9 mg/day

Iron deficiency can lead to anemia, characterized by fatigue, weakness, and shortness of breath. Excessive iron intake may result in iron overload, causing damage to organs such as the liver and heart. Balanced iron levels are essential for maintaining optimal health.

Histocompatibility antigens, class I are proteins found on the surface of most cells in the body. They play a critical role in the immune system's ability to differentiate between "self" and "non-self." These antigens are composed of three polypeptides - two heavy chains and one light chain - and are encoded by genes in the major histocompatibility complex (MHC) on chromosome 6 in humans.

Class I MHC molecules present peptide fragments from inside the cell to CD8+ T cells, also known as cytotoxic T cells. This presentation allows the immune system to detect and destroy cells that have been infected by viruses or other intracellular pathogens, or that have become cancerous.

There are three main types of class I MHC molecules in humans: HLA-A, HLA-B, and HLA-C. The term "HLA" stands for human leukocyte antigen, which reflects the original identification of these proteins on white blood cells (leukocytes). The genes encoding these molecules are highly polymorphic, meaning there are many different variants in the population, and matching HLA types is essential for successful organ transplantation to minimize the risk of rejection.

Phlebotomy is a medical term that refers to the process of making an incision in a vein, usually in the arm, in order to draw blood. It is also commonly known as venipuncture. This procedure is performed by healthcare professionals for various purposes such as diagnostic testing, blood donation, or therapeutic treatments like phlebotomy for patients with hemochromatosis (a condition where the body absorbs too much iron from food).

The person who performs this procedure is called a phlebotomist. They must be trained in the proper techniques to ensure that the process is safe and relatively pain-free for the patient, and that the blood sample is suitable for laboratory testing.

Transferrin is a glycoprotein that plays a crucial role in the transport and homeostasis of iron in the body. It's produced mainly in the liver and has the ability to bind two ferric (Fe3+) ions in its N-lobe and C-lobe, thus creating transferrin saturation.

This protein is essential for delivering iron to cells while preventing the harmful effects of free iron, which can catalyze the formation of reactive oxygen species through Fenton reactions. Transferrin interacts with specific transferrin receptors on the surface of cells, particularly in erythroid precursors and brain endothelial cells, to facilitate iron uptake via receptor-mediated endocytosis.

In addition to its role in iron transport, transferrin also has antimicrobial properties due to its ability to sequester free iron, making it less available for bacterial growth and survival. Transferrin levels can be used as a clinical marker of iron status, with decreased levels indicating iron deficiency anemia and increased levels potentially signaling inflammation or liver disease.

Hepcidin is a peptide hormone primarily produced in the liver that plays a crucial role in regulating iron homeostasis within the body. It acts by inhibiting the absorption of dietary iron in the intestines and the release of iron from storage sites, such as macrophages, into the bloodstream. By reducing the amount of iron available for use, hepcidin helps prevent excessive iron accumulation in tissues, which can be harmful and contribute to the development of various diseases, including iron overload disorders and certain types of anemia. The production of hepcidin is regulated by several factors, including iron levels, inflammation, and erythropoiesis (the production of red blood cells).

Ferritin is a protein in iron-metabolizing cells that stores iron in a water-soluble form. It is found inside the cells (intracellular) and is released into the bloodstream when the cells break down or die. Measuring the level of ferritin in the blood can help determine the amount of iron stored in the body. High levels of ferritin may indicate hemochromatosis, inflammation, liver disease, or other conditions. Low levels of ferritin may indicate anemia, iron deficiency, or other conditions.

Transferrin receptors are membrane-bound proteins found on the surface of many cell types, including red and white blood cells, as well as various tissues such as the liver, brain, and placenta. These receptors play a crucial role in iron homeostasis by regulating the uptake of transferrin, an iron-binding protein, into the cells.

Transferrin binds to two ferric ions (Fe3+) in the bloodstream, forming a complex known as holo-transferrin. This complex then interacts with the transferrin receptors on the cell surface, leading to endocytosis of the transferrin-receptor complex into the cell. Once inside the cell, the acidic environment within the endosome causes the release of iron ions from the transferrin molecule, which can then be transported into the cytoplasm for use in various metabolic processes.

After releasing the iron, the apo-transferrin (iron-free transferrin) is recycled back to the cell surface and released back into the bloodstream, where it can bind to more ferric ions and repeat the cycle. This process helps maintain appropriate iron levels within the body and ensures that cells have access to the iron they need for essential functions such as DNA synthesis, energy production, and oxygen transport.

In summary, transferrin receptors are membrane-bound proteins responsible for recognizing and facilitating the uptake of transferrin-bound iron into cells, playing a critical role in maintaining iron homeostasis within the body.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

HLA (Human Leukocyte Antigen) antigens are a group of proteins found on the surface of cells in our body. They play a crucial role in the immune system's ability to differentiate between "self" and "non-self." HLA antigens are encoded by a group of genes located on chromosome 6, known as the major histocompatibility complex (MHC).

There are three types of HLA antigens: HLA class I, HLA class II, and HLA class III. HLA class I antigens are found on the surface of almost all cells in the body and help the immune system recognize and destroy virus-infected or cancerous cells. They consist of three components: HLA-A, HLA-B, and HLA-C.

HLA class II antigens are primarily found on the surface of immune cells, such as macrophages, B cells, and dendritic cells. They assist in the presentation of foreign particles (like bacteria and viruses) to CD4+ T cells, which then activate other parts of the immune system. HLA class II antigens include HLA-DP, HLA-DQ, and HLA-DR.

HLA class III antigens consist of various molecules involved in immune responses, such as cytokines and complement components. They are not directly related to antigen presentation.

The genetic diversity of HLA antigens is extensive, with thousands of variations or alleles. This diversity allows for a better ability to recognize and respond to a wide range of pathogens. However, this variation can also lead to compatibility issues in organ transplantation, as the recipient's immune system may recognize the donor's HLA antigens as foreign and attack the transplanted organ.

Antimicrobial cationic peptides (ACPs) are a group of small, naturally occurring peptides that possess broad-spectrum antimicrobial activity against various microorganisms, including bacteria, fungi, viruses, and parasites. They are called "cationic" because they contain positively charged amino acid residues (such as lysine and arginine), which allow them to interact with and disrupt the negatively charged membranes of microbial cells.

ACPs are produced by a wide range of organisms, including humans, animals, and plants, as part of their innate immune response to infection. They play an important role in protecting the host from invading pathogens by directly killing them or inhibiting their growth.

The antimicrobial activity of ACPs is thought to be mediated by their ability to disrupt the membranes of microbial cells, leading to leakage of cellular contents and death. Some ACPs may also have intracellular targets, such as DNA or protein synthesis, that contribute to their antimicrobial activity.

ACPs are being studied for their potential use as therapeutic agents to treat infectious diseases, particularly those caused by drug-resistant bacteria. However, their clinical application is still in the early stages of development due to concerns about their potential toxicity to host cells and the emergence of resistance mechanisms in microbial pathogens.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Chelation therapy is a medical treatment that involves the use of chelating agents to remove heavy metals and minerals from the body. A chelating agent is a molecule that bonds with the metal ions, forming a stable, water-soluble complex that can be excreted through urine or stool.

The most common chelating agent used in medical settings is ethylene diamine tetraacetic acid (EDTA), which is administered intravenously. EDTA binds with metals such as lead, mercury, iron, and calcium, and helps to eliminate them from the body.

Chelation therapy is primarily used to treat heavy metal poisoning, such as lead or mercury toxicity. It may also be used in some cases to treat cardiovascular disease, although its effectiveness for this use is still a matter of debate and controversy.

It's important to note that chelation therapy should only be administered under the supervision of a qualified healthcare professional, as improper use can lead to serious side effects and complications.

Porphyria Cutanea Tarda (PCT) is a type of porphyria, a group of rare genetic disorders that affect the production of heme, a component in hemoglobin. PCT is primarily an acquired disorder, although it can have a hereditary component as well.

In PCT, there is a dysfunction in the enzyme uroporphyrinogen decarboxylase (UROD), which leads to the accumulation of porphyrins and porphyrin precursors in the skin. This buildup causes the characteristic symptoms of PCT, which include:

* Blisters, particularly on sun-exposed areas such as the hands and face
* Fragile, thin skin that tears easily
* Scarring
* Hypertrichosis (abnormal hair growth)
* Changes in skin color, including redness, increased pigmentation, or loss of pigment

PCT is typically triggered by factors such as alcohol consumption, estrogen use, hepatitis C infection, and exposure to certain chemicals. Treatment often involves addressing these triggers, along with the use of phlebotomy (removal of blood) or low-dose hydroxychloroquine to reduce porphyrin levels in the body.

It's important to note that PCT is a complex disorder and its diagnosis and management should be done by healthcare professionals with experience in managing porphyrias.

Iron metabolism disorders are a group of medical conditions that affect the body's ability to absorb, transport, store, or utilize iron properly. Iron is an essential nutrient that plays a crucial role in various bodily functions, including oxygen transportation and energy production. However, imbalances in iron levels can lead to several health issues.

There are two main types of iron metabolism disorders:

1. Iron deficiency anemia (IDA): This condition occurs when the body lacks adequate iron to produce sufficient amounts of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. Causes of IDA may include inadequate dietary iron intake, blood loss, or impaired iron absorption due to conditions like celiac disease or inflammatory bowel disease.
2. Hemochromatosis: This is a genetic disorder characterized by excessive absorption and accumulation of iron in various organs, including the liver, heart, and pancreas. Over time, this excess iron can lead to organ damage and diseases such as cirrhosis, heart failure, diabetes, and arthritis. Hemochromatosis is typically caused by mutations in the HFE gene, which regulates iron absorption in the intestines.

Other iron metabolism disorders include:

* Anemia of chronic disease (ACD): A type of anemia that occurs in individuals with chronic inflammation or infection, where iron is not efficiently used for hemoglobin production due to altered regulation.
* Sideroblastic anemias: These are rare disorders characterized by the abnormal formation of ringed sideroblasts (immature red blood cells containing iron-laden mitochondria) in the bone marrow, leading to anemia and other symptoms.
* Iron-refractory iron deficiency anemia (IRIDA): A rare inherited disorder caused by mutations in the TMPRSS6 gene, resulting in impaired regulation of hepcidin, a hormone that controls iron absorption and distribution in the body. This leads to both iron deficiency and iron overload.

Proper diagnosis and management of iron metabolism disorders are essential to prevent complications and maintain overall health. Treatment options may include dietary modifications, iron supplementation, phlebotomy (bloodletting), or chelation therapy, depending on the specific disorder and its severity.

Cation transport proteins are a type of membrane protein that facilitate the movement of cations (positively charged ions) across biological membranes. These proteins play a crucial role in maintaining ion balance and electrical excitability within cells, as well as in various physiological processes such as nutrient uptake, waste elimination, and signal transduction.

There are several types of cation transport proteins, including:

1. Ion channels: These are specialized protein structures that form a pore or channel through the membrane, allowing ions to pass through rapidly and selectively. They can be either voltage-gated or ligand-gated, meaning they open in response to changes in electrical potential or binding of specific molecules, respectively.

2. Ion pumps: These are active transport proteins that use energy from ATP hydrolysis to move ions against their electrochemical gradient, effectively pumping them from one side of the membrane to the other. Examples include the sodium-potassium pump (Na+/K+-ATPase) and calcium pumps (Ca2+ ATPase).

3. Ion exchangers: These are antiporter proteins that facilitate the exchange of one ion for another across the membrane, maintaining electroneutrality. For example, the sodium-proton exchanger (NHE) moves a proton into the cell in exchange for a sodium ion being moved out.

4. Symporters: These are cotransporter proteins that move two or more ions together in the same direction, often coupled with the transport of a solute molecule. An example is the sodium-glucose cotransporter (SGLT), which facilitates glucose uptake into cells by coupling its movement with that of sodium ions.

Collectively, cation transport proteins help maintain ion homeostasis and contribute to various cellular functions, including electrical signaling, enzyme regulation, and metabolic processes. Dysfunction in these proteins can lead to a range of diseases, such as neurological disorders, cardiovascular disease, and kidney dysfunction.

Hemosiderosis is a medical condition characterized by the abnormal accumulation of hemosiderin, an iron-containing protein, in various organs and tissues of the body. Hemosiderin is derived from the breakdown of hemoglobin, which is the oxygen-carrying protein in red blood cells. When there is excessive breakdown of red blood cells or impaired clearance of hemosiderin, it can lead to its accumulation in organs such as the liver, spleen, and lungs.

Hemosiderosis can be classified into two types: primary and secondary. Primary hemosiderosis is a rare condition that is caused by genetic disorders affecting red blood cells, while secondary hemosiderosis is more common and is associated with various conditions that cause excessive breakdown of red blood cells or chronic inflammation. These conditions include hemolytic anemias, repeated blood transfusions, liver diseases, infections, and certain autoimmune disorders.

The accumulation of hemosiderin can lead to tissue damage and organ dysfunction, particularly in the lungs, where it can cause pulmonary fibrosis, and in the heart, where it can lead to heart failure. Hemosiderosis is typically diagnosed through a combination of medical history, physical examination, and laboratory tests, including blood tests and imaging studies such as chest X-rays or MRI scans. Treatment of hemosiderosis depends on the underlying cause and may include medications, blood transfusions, or supportive care to manage symptoms and prevent complications.

Penetrance, in medical genetics, refers to the proportion of individuals with a particular genetic variant or mutation who exhibit clinical features or symptoms of a resulting disease. It is often expressed as a percentage, with complete penetrance indicating that all individuals with the genetic change will develop the disease, and reduced or incomplete penetrance suggesting that not all individuals with the genetic change will necessarily develop the disease, even if they express some of its characteristics.

Penetrance can vary depending on various factors such as age, sex, environmental influences, and interactions with other genes. Incomplete penetrance is common in many genetic disorders, making it challenging to predict who will develop symptoms based solely on their genotype.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

"Iron radioisotopes" refer to specific forms of the element iron that have unstable nuclei and emit radiation. These isotopes are often used in medical imaging and treatment procedures due to their ability to be detected by specialized equipment. Common iron radioisotopes include Iron-52, Iron-55, Iron-59, and Iron-60. They can be used as tracers to study the distribution, metabolism, or excretion of iron in the body, or for targeted radiation therapy in conditions such as cancer.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

I'm sorry for any confusion, but "mythology" is not a term that has a medical definition. Mythology refers to the body of myths associated with a culture, religion, or historical stage of development. It's often used in the context of studying ancient civilizations and their belief systems, folklore, and literature. If you have any questions related to medical terminology, I'd be happy to help!

Cytapheresis is a medical procedure that involves the separation and removal of specific types of blood cells or particles from a donor or patient's blood, while returning the remaining components back to the circulation. The term "cytapheresis" comes from the Greek words "kytos," meaning cell, and "apherein," meaning to transfer or remove.

There are several types of cytapheresis, including:

1. Erythrocytapheresis (Red Cell Exchange): This procedure is used to reduce the number of red blood cells in patients with severe sickle cell disease or other hemoglobinopathies during a vaso-occlusive crisis or to prevent stroke in children with sickle cell disease.
2. Leukapheresis: It is used to collect large numbers of white blood cells (leukocytes) from donors for the production of immunotherapeutic agents, such as monoclonal antibodies and dendritic cell vaccines. Additionally, it can be employed to reduce the number of white blood cells in patients with leukemia or other hematological disorders.
3. Plateletapheresis: This procedure is used to collect platelets from donors for transfusion purposes or to reduce the number of platelets in patients with thrombocytopenia or thrombocytosis.
4. Lymphapheresis: It is used to collect lymphocytes, mainly T- and B-cells, from donors for immunotherapy or to deplete malignant lymphocytes in patients with certain types of cancer, such as Hodgkin's lymphoma.
5. Lipoproteinapheresis: This procedure is used to lower the levels of low-density lipoproteins (LDL) and lipids in patients with familial hypercholesterolemia or other severe forms of dyslipidemia.

Cytapheresis can be performed using a centrifugation method, where blood is spun in a special machine to separate the components based on their density, or a filtration method, where blood passes through a filter that captures the target cells or particles. The procedure typically takes 1-3 hours and may require the use of anticoagulants to prevent clotting during the process.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Dietary iron is a vital nutrient that plays a crucial role in the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. It is also essential for various other bodily functions, including energy production and immune function.

There are two forms of dietary iron: heme and non-heme. Heme iron is found in animal products such as meat, poultry, and fish, while non-heme iron is found in plant-based foods such as beans, lentils, tofu, spinach, and fortified cereals.

The recommended daily intake of dietary iron varies depending on age, sex, and other factors. For example, adult men typically require 8 milligrams (mg) per day, while adult women need 18 mg per day. Pregnant women may require up to 27 mg per day, while breastfeeding women need around 9-10 mg per day.

It is important to note that the absorption of non-heme iron from plant-based foods can be enhanced by consuming them with vitamin C-rich foods or drinks, such as citrus fruits, strawberries, and bell peppers. On the other hand, certain substances such as tannins (found in tea and coffee) and phytates (found in whole grains and legumes) can inhibit the absorption of non-heme iron.

Iron-binding proteins, also known as transferrins, are a type of protein responsible for the transport and storage of iron in the body. They play a crucial role in maintaining iron homeostasis by binding free iron ions and preventing them from participating in harmful chemical reactions that can produce reactive oxygen species (ROS) and cause cellular damage.

Transferrin is the primary iron-binding protein found in blood plasma, while lactoferrin is found in various exocrine secretions such as milk, tears, and saliva. Both transferrin and lactoferrin have a similar structure, consisting of two lobes that can bind one ferric ion (Fe3+) each. When iron is bound to these proteins, they are called holo-transferrin or holo-lactoferrin; when they are unbound, they are referred to as apo-transferrin or apo-lactoferrin.

Iron-binding proteins have a high affinity for iron and can regulate the amount of free iron available in the body. They help prevent iron overload, which can lead to oxidative stress and cellular damage, as well as iron deficiency, which can result in anemia and other health problems.

In summary, iron-binding proteins are essential for maintaining iron homeostasis by transporting and storing iron ions, preventing them from causing harm to the body's cells.

Iron chelating agents are medications that bind to iron in the body, forming a stable complex that can then be excreted from the body. These agents are primarily used to treat iron overload, a condition that can occur due to frequent blood transfusions or certain genetic disorders such as hemochromatosis. By reducing the amount of iron in the body, these medications can help prevent or reduce damage to organs such as the heart and liver. Examples of iron chelating agents include deferoxamine, deferasirox, and deferiprone.

Human chromosome pair 6 consists of two rod-shaped structures present in the nucleus of each human cell. They are identical in size and shape and contain genetic material, made up of DNA and proteins, that is essential for the development and function of the human body.

Chromosome pair 6 is one of the 23 pairs of chromosomes found in humans, with one chromosome inherited from each parent. Each chromosome contains thousands of genes that provide instructions for the production of proteins and regulate various cellular processes.

Chromosome pair 6 contains several important genes, including those involved in the development and function of the immune system, such as the major histocompatibility complex (MHC) genes. It also contains genes associated with certain genetic disorders, such as hereditary neuropathy with liability to pressure palsies (HNPP), a condition that affects the nerves, and Waardenburg syndrome, a disorder that affects pigmentation and hearing.

Abnormalities in chromosome pair 6 can lead to various genetic disorders, including numerical abnormalities such as trisomy 6 (three copies of chromosome 6) or monosomy 6 (only one copy of chromosome 6), as well as structural abnormalities such as deletions, duplications, or translocations of parts of the chromosome.

GPI-linked proteins are a type of cell surface protein that are attached to the plasma membrane via a glycosylphosphatidylinositol (GPI) anchor. The GPI anchor is a complex glycolipid molecule that acts as a molecular tether, connecting the protein to the outer leaflet of the lipid bilayer of the cell membrane.

The GPI anchor is synthesized in the endoplasmic reticulum (ER) and added to proteins in the ER or Golgi apparatus during protein trafficking. The addition of the GPI anchor to a protein occurs in a post-translational modification process called GPI anchoring, which involves the transfer of the GPI moiety from a lipid carrier to the carboxyl terminus of the protein.

GPI-linked proteins are found on the surface of many different types of cells, including red blood cells, immune cells, and nerve cells. They play important roles in various cellular processes, such as cell signaling, cell adhesion, and enzyme function. Some GPI-linked proteins also serve as receptors for bacterial toxins and viruses, making them potential targets for therapeutic intervention.

HLA-A antigens are a type of human leukocyte antigen (HLA) found on the surface of cells in our body. They are proteins that play an important role in the immune system by helping the body recognize and distinguish its own cells from foreign substances such as viruses, bacteria, and transplanted organs.

The HLA-A antigens are part of the major histocompatibility complex (MHC) class I molecules, which present peptide fragments from inside the cell to CD8+ T cells, also known as cytotoxic T lymphocytes (CTLs). The CTLs then recognize and destroy any cells that display foreign or abnormal peptides on their HLA-A antigens.

Each person has a unique set of HLA-A antigens, which are inherited from their parents. These antigens can vary widely between individuals, making it important to match HLA types in organ transplantation to reduce the risk of rejection. Additionally, certain HLA-A antigens have been associated with increased susceptibility or resistance to various diseases, including autoimmune disorders and infectious diseases.

Inborn errors of metal metabolism refer to genetic disorders that affect the way the body processes and handles certain metallic elements. These disorders can result in an accumulation or deficiency of specific metals, leading to various clinical manifestations. Examples of such conditions include:

1. Wilson's disease: An autosomal recessive disorder caused by a mutation in the ATP7B gene, which results in abnormal copper metabolism and accumulation in various organs, particularly the liver and brain.
2. Menkes disease: An X-linked recessive disorder caused by a mutation in the ATP7A gene, leading to impaired copper transport and deficiency, affecting the brain, bones, and connective tissue.
3. Hemochromatosis: An autosomal recessive disorder characterized by excessive iron absorption and deposition in various organs, causing damage to the liver, heart, and pancreas.
4. Acrodermatitis enteropathica: A rare autosomal recessive disorder caused by a mutation in the SLC39A4 gene, resulting in zinc deficiency and affecting the skin, gastrointestinal system, and immune function.
5. Disturbances in manganese metabolism: Rare genetic disorders that can lead to either manganese accumulation or deficiency, causing neurological symptoms.

These conditions often require specialized medical management, including dietary modifications, chelation therapy, and/or supplementation to maintain appropriate metal homeostasis and prevent organ damage.

Liver cirrhosis is a chronic, progressive disease characterized by the replacement of normal liver tissue with scarred (fibrotic) tissue, leading to loss of function. The scarring is caused by long-term damage from various sources such as hepatitis, alcohol abuse, nonalcoholic fatty liver disease, and other causes. As the disease advances, it can lead to complications like portal hypertension, fluid accumulation in the abdomen (ascites), impaired brain function (hepatic encephalopathy), and increased risk of liver cancer. It is generally irreversible, but early detection and treatment of underlying causes may help slow down its progression.

Deferoxamine is a medication used to treat iron overload, which can occur due to various reasons such as frequent blood transfusions or excessive iron intake. It works by binding to excess iron in the body and promoting its excretion through urine. This helps to prevent damage to organs such as the heart and liver that can be caused by high levels of iron.

Deferoxamine is an injectable medication that is typically administered intravenously or subcutaneously, depending on the specific regimen prescribed by a healthcare professional. It may also be used in combination with other medications to manage iron overload more effectively.

It's important to note that deferoxamine should only be used under the guidance of a medical professional, as improper use or dosing can lead to serious side effects or complications.

Beta-2 microglobulin (β2M) is a small protein that is a component of the major histocompatibility complex class I molecule, which plays a crucial role in the immune system. It is found on the surface of almost all nucleated cells in the body and is involved in presenting intracellular peptides to T-cells for immune surveillance.

β2M is produced at a relatively constant rate by cells throughout the body and is freely filtered by the glomeruli in the kidneys. Under normal circumstances, most of the filtrated β2M is reabsorbed and catabolized in the proximal tubules of the nephrons. However, when the glomerular filtration rate (GFR) is decreased, as in chronic kidney disease (CKD), the reabsorption capacity of the proximal tubules becomes overwhelmed, leading to increased levels of β2M in the blood and its subsequent appearance in the urine.

Elevated serum and urinary β2M levels have been associated with various clinical conditions, such as CKD, multiple myeloma, autoimmune disorders, and certain infectious diseases. Measuring β2M concentrations can provide valuable information for diagnostic, prognostic, and monitoring purposes in these contexts.

Liver diseases refer to a wide range of conditions that affect the normal functioning of the liver. The liver is a vital organ responsible for various critical functions such as detoxification, protein synthesis, and production of biochemicals necessary for digestion.

Liver diseases can be categorized into acute and chronic forms. Acute liver disease comes on rapidly and can be caused by factors like viral infections (hepatitis A, B, C, D, E), drug-induced liver injury, or exposure to toxic substances. Chronic liver disease develops slowly over time, often due to long-term exposure to harmful agents or inherent disorders of the liver.

Common examples of liver diseases include hepatitis, cirrhosis (scarring of the liver tissue), fatty liver disease, alcoholic liver disease, autoimmune liver diseases, genetic/hereditary liver disorders (like Wilson's disease and hemochromatosis), and liver cancers. Symptoms may vary widely depending on the type and stage of the disease but could include jaundice, abdominal pain, fatigue, loss of appetite, nausea, and weight loss.

Early diagnosis and treatment are essential to prevent progression and potential complications associated with liver diseases.

The Mononuclear Phagocyte System (MPS) is a network of specialized immune cells distributed throughout the body, primarily consisting of monocytes, macrophages, and dendritic cells. These cells share a common bone marrow-derived precursor and play crucial roles in innate and adaptive immunity. They are involved in various functions such as:

1. Phagocytosis: engulfing and destroying foreign particles, microbes, and cellular debris.
2. Antigen presentation: processing and presenting antigens to T-cells to initiate an adaptive immune response.
3. Cytokine production: releasing pro- and anti-inflammatory cytokines to regulate immune responses and maintain tissue homeostasis.
4. Immune regulation: modulating the activity of other immune cells, including T-cells, B-cells, and natural killer (NK) cells.

The MPS is essential for maintaining tissue integrity, fighting infections, and orchestrating immune responses. Its components are found in various tissues, including the liver (Kupffer cells), spleen, lymph nodes, bone marrow, and connective tissues.

Bone Morphogenetic Protein 6 (BMP-6) is a member of the transforming growth factor-beta (TGF-β) superfamily of proteins. It plays crucial roles in bone and cartilage formation, as well as in the regulation of iron metabolism. BMP-6 stimulates the differentiation of mesenchymal stem cells into osteoblasts, which are bone-forming cells, and contributes to the maintenance of bone homeostasis. Additionally, BMP-6 is involved in the process of hepcidin regulation, a hormone that controls iron absorption and recycling in the body. Dysregulation of BMP-6 has been implicated in various diseases, including skeletal disorders and iron metabolism-related conditions.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

Dyserythropoietic anemia, congenital is a rare type of inherited anemia characterized by ineffective red blood cell production (erythropoiesis) in the bone marrow. This means that the body has difficulty producing healthy and fully mature red blood cells. The condition is caused by mutations in genes responsible for the development and maturation of red blood cells, leading to the production of abnormally shaped and dysfunctional red blood cells.

There are two main types of congenital dyserythropoietic anemia (CDA), type I and type II, each caused by different genetic mutations:

1. CDA Type I (HEMPAS): This form is caused by a mutation in the SEC23B gene. It typically presents in early childhood with mild to moderate anemia, jaundice, and splenomegaly (enlarged spleen). The severity of the condition can vary widely among affected individuals.
2. CDA Type II (HIEM): This form is caused by a mutation in the KIF23 gene or, less commonly, the TCIRG1 gene. It typically presents in infancy with moderate to severe anemia, hepatomegaly (enlarged liver), and splenomegaly. The condition can lead to iron overload due to repeated blood transfusions, which may require chelation therapy to manage.

Both types of congenital dyserythropoietic anemia are characterized by ineffective erythropoiesis, abnormal red blood cell morphology, and increased destruction of red blood cells (hemolysis). Treatment typically involves supportive care, such as blood transfusions to manage anemia, and occasionally chelation therapy to address iron overload. In some cases, bone marrow transplantation may be considered as a curative option.

The duodenum is the first part of the small intestine, immediately following the stomach. It is a C-shaped structure that is about 10-12 inches long and is responsible for continuing the digestion process that begins in the stomach. The duodenum receives partially digested food from the stomach through the pyloric valve and mixes it with digestive enzymes and bile produced by the pancreas and liver, respectively. These enzymes help break down proteins, fats, and carbohydrates into smaller molecules, allowing for efficient absorption in the remaining sections of the small intestine.

Beta-thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. Specifically, beta-thalassemia is caused by mutations in the beta-globin gene, which leads to reduced or absent production of the beta-globin component of hemoglobin.

There are two main types of beta-thalassemia:

1. Beta-thalassemia major (also known as Cooley's anemia): This is a severe form of the disorder that typically becomes apparent in early childhood. It is characterized by a significant reduction or absence of beta-globin production, leading to anemia, enlarged spleen and liver, jaundice, and growth retardation.
2. Beta-thalassemia intermedia: This is a milder form of the disorder that may not become apparent until later in childhood or even adulthood. It is characterized by a variable reduction in beta-globin production, leading to mild to moderate anemia and other symptoms that can range from nonexistent to severe.

Treatment for beta-thalassemia depends on the severity of the disorder and may include blood transfusions, iron chelation therapy, and/or bone marrow transplantation. In some cases, genetic counseling and prenatal diagnosis may also be recommended for families with a history of the disorder.

Uroporphyrinogen decarboxylase is a vital enzyme in the biosynthetic pathway of heme, which is a crucial component of hemoglobin in red blood cells. This enzyme is responsible for catalyzing the decarboxylation of uroporphyrinogen III, a colorless porphyrinogen, to produce coproporphyrinogen III, a brownish-red porphyrinogen.

The reaction involves the sequential removal of four carboxyl groups from the four acetic acid side chains of uroporphyrinogen III, resulting in the formation of coproporphyrinogen III. This enzyme's activity is critical for the normal biosynthesis of heme, and any defects or deficiencies in its function can lead to various porphyrias, a group of metabolic disorders characterized by the accumulation of porphyrins and their precursors in the body.

The gene responsible for encoding uroporphyrinogen decarboxylase is UROD, located on chromosome 1p34.1. Mutations in this gene can lead to a deficiency in the enzyme's activity, causing an autosomal recessive disorder known as congenital erythropoietic porphyria (CEP), also referred to as Günther's disease. This condition is characterized by severe photosensitivity, hemolytic anemia, and scarring or thickening of the skin.

Bloodletting is a medical procedure that was commonly used in the past to balance the four humors of the body, which were believed to be blood, phlegm, black bile, and yellow bile. The procedure involved withdrawing blood from a patient through various methods such as venesection (making an incision in a vein), leeches, or cupping.

The theory behind bloodletting was that if one humor became overabundant, it could cause disease or illness. By removing some of the excess humor, practitioners believed they could restore balance and promote healing. Bloodletting was used to treat a wide variety of conditions, including fever, inflammation, and pain.

While bloodletting is no longer practiced in modern medicine, it was once a common treatment for many different ailments. The practice dates back to ancient times and was used by various cultures throughout history, including the Greeks, Romans, Egyptians, and Chinese. However, its effectiveness as a medical treatment has been called into question, and it is now considered an outdated and potentially harmful procedure.

Siderosis is a medical condition characterized by the abnormal accumulation of iron in various tissues and organs, most commonly in the lungs. This occurs due to the repeated inhalation of iron-containing dusts or fumes, which can result from certain industrial processes such as welding, mining, or smelting.

In the lungs, this iron deposit can lead to inflammation and fibrosis, potentially causing symptoms like coughing, shortness of breath, and decreased lung function. It is important to note that siderosis itself is not contagious or cancerous, but there may be an increased risk for lung cancer in individuals with severe and prolonged exposure to iron-containing particles.

While siderosis is generally non-reversible, the progression of symptoms can often be managed through medical interventions and environmental modifications to reduce further exposure to iron-containing dusts or fumes.

The condition is sometimes confused with juvenile hemochromatosis, which is a hereditary hemochromatosis caused by mutations of ... Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests that it may be ... The causes of neonatal hemochromatosis are still unknown, but recent research has led to the hypothesis that it is an ... Its characteristics are similar to hereditary hemochromatosis, where iron deposition causes damage to the liver and other ...
... , also known as hemochromatosis type 2, is a rare form of hereditary hemochromatosis, which emerges in ... Treatment for juvenile hemochromatosis is similar to that for other forms of hemochromatosis and iron overload, and focuses on ... "Juvenile Hemochromatosis". NORD (National Organization for Rare Disorders). Retrieved 2022-04-03. "Hemochromatosis type 2 , ... Other types of hereditary hemochromatosis Atransferrinemia Aceruloplasminemia African iron overload Neonatal hemochromatosis ...
Type 4A hemochromatosis typically has milder symptoms than other types of hemochromatosis. Individuals with type 4A ... The symptoms of type 4B hemochromatosis tend to be more severe. They resemble the symptoms of hemochromatosis types 1, 2, and 3 ... Individuals with hemochromatosis type 4B may be treated with therapeutic phlebotomy. However, individuals with hemochromatosis ... Type 4 hemochromatosis is caused by mutations of the SLC40A1 gene, located on the long arm of chromosome 2, specifically at ...
Non-HFE associated hemochromatosis, as Haemochromatosis type 2, Haemochromatosis type 3, Haemochromatosis type 4 and ... Haemochromatosis type 2. Haemochromatosis type 3. Haemochromatosis type 4. Haemochromatosis type 5. African iron overload, ... Hereditary haemochromatosis type 1 (HFE-related Hemochromatosis) is a genetic disorder characterized by excessive intestinal ... "Hereditary hemochromatosis". Genetics Home Reference. Hemochromatosis-Diagnosis Archived 2007-03-18 at the Wayback Machine ...
"Hemochromatosis type 3 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-04-26. "Hemochromatosis type 3". ... "Hemochromatosis: Practice Essentials, Background, Pathophysiology". 2019-11-21. Retrieved 2021-04-29. "Hemochromatosis type 3 ... which makes haemochromatosis one of the most common hereditary diseases in Norway. Type 1 hemochromatosis is one of the most ... Haemochromatosis, reviewed 311 patient case reports and presented the idea that haemochromatosis was a congenital metabolic ...
"Hemochromatosis". guidelinecentral.com. Ghadiri M, Vasheghani-Farahani E, Atyabi F, Kobarfard F, Mohamadyar-Toupkanlou F, ... Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS (July 2011). "Diagnosis and management of hemochromatosis: 2011 practice ... This finding helps in the early diagnosis of Hereditary hemochromatosis, especially while serum ferritin still remains low. The ... This explains why ferritin levels remain relative low in Hereditary hemochromatosis, while transferrin saturation is high. ...
"Hemochromatosis". guidelinecentral.com. Cotler SJ, Bronner MP, Press RD, Carlson TH, Perkins JD, Emond MJ, Kowdley KV (August ... Ferritin is also used as a marker for iron overload disorders, such as hemochromatosis or hemosiderosis. Adult-onset Still's ... Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS (July 2011). "Diagnosis and management of hemochromatosis: 2011 practice ... This finding helps in the early diagnosis of hereditary hemochromatosis, especially while serum ferritin still remains low. The ...
Hereditary diseases that cause damage to the liver include hemochromatosis, involving accumulation of iron in the body, and ... "Hemochromatosis". MedlinePlus. "Alpha-1 Antitrypsin Deficiency". MedlinePlus. Leslie, Nancy; Tinkle, Brad T. (1993). "Pompe ... Regularly removing a quantity of blood from a vein (venesection) in the iron overload condition, hemochromatosis. Wilson's ... "Phlebotomy Treatment , Treatment and Management , Training & Education , Hemochromatosis (Iron Storage Disease) , NCBDDD , CDC ...
Hfe is the mouse equivalent of the human hemochromatosis gene HFE. The protein encoded by HFE is Hfe. Mice homozygous (two ... "Hemochromatosis". Archived from the original on 18 March 2007. Retrieved 20 August 2009. Gromadzka G, Wierzbicka DW, ... In: Hemochromatosis: Genetics, pathophysiology, diagnosis and treatment: Cambridge University Press. pp. 51-62. ISBN 978- ... In: Hemochromatosis: Genetics, pathophysiology, diagnosis and treatment. Cambridge University Press. pp. 42-50. ISBN 978- ...
Hemochromatosis is estimated to be the cause of 0.3 to 0.8% of all metabolic diseases of Caucasians. Overdoses of ingested iron ... In these people, excessive iron intake can result in iron overload disorders, known medically as hemochromatosis. Many people ... Durupt, S.; Durieu, I.; Nové-Josserand, R.; Bencharif, L.; Rousset, H.; Vital Durand, D. (2000). "Hereditary hemochromatosis". ...
"Hemochromatosis: Causes". Mayo Foundation for Medical Education and Research (MFMER). den Dunnen JT, Dalgleish R, Maglott DR, ... The homozygous HFE-H63D mutation is the cause of classic and treatable hemochromatosis in only 6.7% of its carriers. H63D ... 2007). "Hereditary hemochromatosis genotypes and risk of ischemic stroke". Neurology. 68 (13): 1025-31. doi:10.1212/01.wnl. ... Homozygous H63D variant can occasionally be the cause of hemochromatosis. It is also associated with the occurrence of other ...
Hemochromatosis (Feb 2003). Iron Overload Study Research, Investigators. "Hemochromatosis and Iron Overload Screening (HEIRS) ... "African Hemochromatosis". Iron Disorders Institute. Retrieved 17 April 2014. McGregor, JA; Shayeghi, M; Vulpe, CD; Anderson, GJ ... and hemochromatosis-associated FPN mutations". Blood. 105 (10): 4096-102. doi:10.1182/blood-2004-11-4502. PMID 15692071. Bantu ... "Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin". Blood. 106 (3): 1092-7. doi: ...
"Hemochromatosis Workup". Medscape. Retrieved 2016-07-14. Updated: Jan 02, 2016 Derived from mass values using molar mass of ...
Ehlers-Danlos syndrome Hemochromatosis and Wilson's disease Inflammatory diseases (such as Perthes' disease), (Lyme disease), ... "Hereditary Hemochromatosis". The Lecturio Medical Concept Library. Retrieved 22 August 2021. "Marfan Syndrome". The Lecturio ...
"Hereditary Hemochromatosis". The Lecturio Medical Concept Library. Retrieved 25 August 2021. Bestetti, Reinaldo B. (Nov 2016 ... Thyroid Disorders Hemochromatosis (excessive iron in the blood) Amyloidosis Chagas disease, an important cause of cardiomegaly ...
Huang FW, Pinkus JL, Pinkus GS, Fleming MD, Andrews NC (August 2005). "A mouse model of juvenile hemochromatosis". J. Clin. ... Mouse HJV knock-out models confirmed that HJV is the gene responsible for juvenile hemochromatosis. Hepcidin levels in the ... Mutations in HJV are responsible for the vast majority of juvenile hemochromatosis patients. A small number of patients have ... Hemojuvelin (HJV), also known as repulsive guidance molecule C (RGMc) or hemochromatosis type 2 protein (HFE2), is a membrane- ...
Iron overload (hemochromatosis). Diet: Malnutrition, particularly vitamin A and E deficiencies, can worsen alcohol-induced ...
GeneLetter 2001; 1(Jan; 12) Hemochromatosis imbroglio. GeneLetter 2001; 1(Jan; 12) Happy Birthday, GeneLetter. GeneLetter 2001 ...
"Hemochromatosis Clinical Presentation". Medscape.com. eMedicine. Retrieved 6 August 2015. J. W. Bennett; M. Klich (2003). " ... high doses of vitamin D altitude diuresis side effect of lithium hemochromatosis ochratoxicosis Polyuria in osmotic cases, ...
CACNA1A Hemochromatosis, type 2A; 602390; HJV Hemochromatosis, type 2B; 613313; HAMP Hemochromatosis, type 3; 604250; TFR2 ... Hemochromatosis, type 4; 606069; SLC40A1 Hemolytic anemia due to adenylate kinase deficiency; 612631; AK1 Hemolytic anemia due ...
Bronze diabetes See: Hemochromatosis. Bunion A bump or bulge on the first joint of the big toe caused by the swelling of a sac ... Hemochromatosis A condition in which excess iron levels are deposited in body tissues, damaging them. Characteristically, it ...
In iron chelation therapy, deferoxamine, has been used to treat excess iron stores, i.e. haemochromatosis. DTPA EDDHA Tartrate ... "Hemochromatosis: Monitoring and Treatment". National Center on Birth Defects and Developmental Disabilities (NCBDDD). 2007-11- ...
Hemochromatosis (Iron Storage Disease) , NCBDDD , CDC". www.cdc.gov. Retrieved 2016-01-29. "Gene Therapy is 'Becoming a ...
... "non-classical hereditary hemochromatosis", "non-HFE related hereditary hemochromatosis", or "non-HFE hemochromatosis". Most ... Iron overload or haemochromatosis (also spelled hemochromatosis in American English) indicates increased total accumulation of ... Total iron binding capacity may be low in hemochromatosis, but can also be normal. General screening for hemochromatosis is not ... "Haemochromatosis and diabetes". Diabetes UK. thefreedictionary.com > hemochromatosis, citing: The American Heritage Medical ...
... is used today in the treatment of a few diseases, including hemochromatosis and polycythemia. It is practiced by ... However, in the case of hemochromatosis, bloodletting (by venipuncture) has become the mainstay treatment option. In the U.S., ... Therapeutic phlebotomy refers to the drawing of a unit of blood in specific cases like hemochromatosis, polycythemia vera, ... Powell, Lawrie W; Seckington, Rebecca C; Deugnier, Yves (2016). "Haemochromatosis". The Lancet. 388 (10045): 706-16. doi: ...
... or hereditary hemochromatosis (iron overload, where iron accumulation occurs) These polymers or particles have a negligible or ... "Chelating Polymers for Hereditary Hemochromatosis Treatment". Macromolecular Bioscience. 20 (12): 2000254. doi:10.1002/mabi. ...
Barton, James C.; Edwards, Corwin Q. (2000-01-13). Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment. ...
"Chelating Polymers for Hereditary Hemochromatosis Treatment". Macromolecular Bioscience. 20 (12): 2000254. doi:10.1002/mabi. ...
Hemochromatosis may cause hand joint arthritis. Acute rheumatic fever can be differentiated by a migratory pattern of joint ... Elevated ferritin levels can reveal hemochromatosis, a mimic of RA, or be a sign of Still's disease, a seronegative, usually ... Barton JC, Barton JC (2015). "Autoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity and Their First ...
Iron treatment is detrimental as it does not correct the anemia and is a cause of secondary hemochromatosis. Transferrin " ... Barton, James C.; Edwards, Corwin Q. (2001). Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment. Cambridge ...
The condition is sometimes confused with juvenile hemochromatosis, which is a hereditary hemochromatosis caused by mutations of ... Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests that it may be ... The causes of neonatal hemochromatosis are still unknown, but recent research has led to the hypothesis that it is an ... Its characteristics are similar to hereditary hemochromatosis, where iron deposition causes damage to the liver and other ...
If you have a family health history of hemochromatosis, talk to your doctor about testing for hereditary hemochromatosis. ... Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems. Early diagnosis ... What is hemochromatosis?. Hemochromatosis is a disorder in which the body can build up too much iron in the skin, heart, liver ... What causes hereditary hemochromatosis?. Hereditary hemochromatosis is most commonly caused by certain variants in the HFE gene ...
Hemochromatosis is a condition in which there is too much iron in the body. It is also called iron overload. ... Hemochromatosis is a condition in which there is too much iron in the body. It is also called iron overload. ... Hemochromatosis may also occur as a result of:. *Other blood disorders, such as thalassemia or certain anemias. Too many blood ... Hemochromatosis may be a genetic disorder passed down through families.. *People with this type absorb too much iron through ...
Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. This is the most common ... Hemochromatosis. What is hemochromatosis? Hemochromatosis is a genetic disorder where the body isnt able to regulate its iron ... Hemochromatosis. What is hemochromatosis? Hemochromatosis is a genetic disorder where the body isnt able to regulate its iron ... See also Neonatal Hemochromatosis, Dermatologic Manifestations of Hemochromatosis, Hereditary Hemochromatosis and HFE, ...
Juvenile hemochromatosis (JH) is an autosomal recessive disease causing iron overload before age 30 in both sexes. JH is ... Hemochromatosis--neonatal and young subjects Blood Cells Mol Dis. 2002 Nov-Dec;29(3):411-7. doi: 10.1006/bcmd.2002.0580. ... Juvenile hemochromatosis (JH) is an autosomal recessive disease causing iron overload before age 30 in both sexes. JH is ... Neonatal hemochromatosis (NH) is a syndrome of unknown origin characterized by congenital cirrhosis or fulminant hepatitis with ...
Genetic Causes of Hemochromatosis. The genetic abnormalities leading to hemochromatosis are driven by the C282Y gene mutation. ... This past week, I saw a patient with hemochromatosis. In preparing for my discussion with him, I had a valuable resource at ... Arthropathy of hemochromatosis (joint damage) does not improve, but it may improve some of the arthralgias. ... If one parent has hemochromatosis, youre looking for C282Y homozygosity in both of them. In the absence of that, the children ...
Prognosis of hemochromatosis and most of its complications, including liver cancer, depend on the amount and duration of iron ... Long-term survival in patients with hereditary hemochromatosis Gastroenterology. 1996 Apr;110(4):1107-19. doi: 10.1053/gast. ... Background & aims: The course of hereditary hemochromatosis may depend on the degree of iron overload and the time of ... Conclusions: Prognosis of hemochromatosis and most of its complications, including liver cancer, depend on the amount and ...
Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. This is the most common ... Hemochromatosis. What is hemochromatosis? Hemochromatosis is a genetic disorder where the body isnt able to regulate its iron ... Management of hemochromatosis. Hemochromatosis Management Working Group. Ann Intern Med. 1998 Dec 1. 129(11):932-9. [QxMD ... encoded search term (Hemochromatosis) and Hemochromatosis What to Read Next on Medscape ...
There are two types of hemochromatosis: Hereditary (genetic) hemochromatosis.. The most common form of hemochromatosis is ... Acquired (secondary) hemochromatosis.. A person may develop acquired hemochromatosis from having many blood transfusions, ... Hereditary hemochromatosis requires treatment throughout a persons life. Acquired hemochromatosis does not need further ... Hemochromatosis is a condition that occurs when too much iron builds up in the body. Small amounts of iron are normally stored ...
Figure 1 Mechanism of iron overload in HFE-related hemochromatosis. The C282Y/C282Y mutations (homozygosity for C282Y) lead to ... Haemochromatosis revisited. World J Hepatol 2022; 14(11): 1931-1939 [PMID: 36483608 DOI: 10.4254/wjh.v14.i11.1931] ... Please note that, in haemochromatosis, the body behaves as if it was chronically iron deficient. ... Haemochromatosis revisited. World J Hepatol 2022; 14(11): 1931-1939 * URL: https://www.wjgnet.com/1948-5182/full/v14/i11/1931. ...
Tags hereditary hemochromatosis, tier 1 guidelines Are We Ready for Population Screening for Hereditary Hemochromatosis?. ... Tags hereditary hemochromatosis A New Public Health Assessment of the Disease Burden of Hereditary Hemochromatosis: How ... Hereditary Hemochromatosis (HH) is an inherited iron storage disorder in which the body builds up too much iron, damaging ... Hereditary hemochromatosis (HH) attributable to mutations in the HFE gene is the most common autosomal recessive disorder among ...
Concept 15: DNA and proteins are key molecules of the cell nucleus. Learn the basic chemistry of DNA and proteins ...
There are two types of hemochromatosis: Hereditary (genetic) hemochromatosis. The most common form of hemochromatosis... ... Hemochromatosis is a condition that occurs when too much iron builds up in the body. Small amounts of iron are normally stored ... There are two types of hemochromatosis: Hereditary (genetic) hemochromatosis.. The most common form of hemochromatosis is ... Acquired (secondary) hemochromatosis.. A person may develop acquired hemochromatosis from having many blood transfusions, ...
How, in the quiet world of outpatient medicine, does one know when a life is saved? More. ...
Hepatic expression of hemochromatosis genes in two mouse strains after phlebotomy and iron overload. Bondi, A., Valentino, P., ... Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis ... Nontransferrin-bound iron uptake by hepatocytes is increased in the Hfe knockout mouse model of hereditary hemochromatosis. ... Haptoglobin modifies the hemochromatosis phenotype in mice [13].. *Our studies revealed that introduction of Rag1 deficiency in ...
... Important Note: This ... She had the blood condition, called Hemochromatosis, that causes the body to absorb and store too much iron. The extra iron ... The letter explained that she appeared to be cured of the hemochromatosis and that she was coping with the emotional cause; ... Therapeutic phlebotomy is the preferred treatment for reducing iron stores in hemochromatosis patients. They must guess how ...
A patient with Hemochromatosis is also found to have Hypoalbuminemia. In this case what is the treatment of choice ? *. A. ... Loss of libido in Hemochromatosis is due to dysfunction of Hypothalamo pitiutary axis.. *. A. ... Hemochromatosis is a condition characterized by iron overload in the body. The excess iron can lead to dysfunction of various ... Hemochromatosis is inherited in an autosomal recessive (AR) pattern. This means that an individual must inherit two copies of ...
The cost analysis of the tests revealed that $20,000 could have been saved by following the GeneReviews guidelines. The total costs affiliated with the 114 tests reached $75,000. Potential savings were thus 26.6% of the total cost of the genetic tests involved in this study. In many clinical settings, if pathologists and medical laboratory managers could help physicians better utilize genetic tests while reducing the cost of such testing by almost 27%, that would be a major contribution. Plus, patients would be getting better care.. Ordering the Right Genetic Test Saves Money and Protects Patients. According to the National Institutes of Health (NIH), costs affiliated with genetic tests can range from less than $100 to more than $2,000 depending on the type and intricacy of the test. The NIH notes that many insurance companies will pay for genetic testing if ordered by a physician.. Ruzzo also shared that many of her cohorts were surprised at the results of the research.. "I think it opened a ...
Learn more about hemochromatosis, blood transfusions, myeloproliferative disorders and the influence on the conduct of these. ... Hemochromatosis occurs if tissue injury is associated.. The symptoms of hemochromatosis are caused by liver cirrhosis, diabetes ... The physician will indicate the added risks caused by hemochromatosis when driving, and the favorable or stable evolution that ... Hemochromatosis, blood transfusion and myeloproliferative disorders interfering with driving ...
Hereditary haemochromatosis. Also known as iron overload disease, it is an inherited disorder in which iron accumulates in the ...
Hemochromatosis: A Neolithic adaptation to cereal grain diets.. Naugler C.. The Neolithic period in Europe marked the ... I propose that hereditary hemochromatosis and in particular the common HFE C282Y mutation may represent an adaptation to ...
Haemochromatosis AustraliaUS - NIH: Hemochromatosis References[edit , edit source]. *↑ a b c d e Haemochromatosis Australia: ... What is Hemochromatosis?[edit , edit source]. Hemochromatosis is a disease that causes the body to absorb more Iron than it ... 2012, 14 Oct 2012). 2013, from http://haemochromatosis.org.au/ *↑ a b c d e f Better Health Channel - Hemochromatosis. (2012). ... Living with Hemochromatosis[edit , edit source]. Symptoms[2][5][edit , edit source]. Symptoms are often not observable until a ...
... the most common form of hemochromatosis known in Europe and the Americas, and liver di... ... Neonatal hemochromatosis is a syndrome in which severe liver disease of fetal or perinatal onset is associated with deposition ... Nonetheless, neonatal hemochromatosis is not a manifestation of HFE disease.. Neonatal hemochromatosis is not a single disorder ... Go to Hemochromatosis and Dermatologic Manifestations of Hemochromatosis for complete information on these topics. ...
... Feb 1, 1987 , Magazine: Revista de Medicina de ... Idiopathic hemochromatosis is an inherited and primary disease.. Its definition requires: a) a family history of abnormalities ... We present here the results from the study of 17 patients diagnosed of idiopathic hemochromatosis over a seven year period in ...
Iron Chelation with Deferasirox in Two Patients with HFE Hemochromatosis and Chronic Anemia Special Collection: Karger e- ... M. Nagler, M. Gregor, W.A. Wuillemin; Iron Chelation with Deferasirox in Two Patients with HFE Hemochromatosis and Chronic ... Pietrangelo A: Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 2010;139:393-408, 408e 391- ... We present 2 patients with hyperferritinemia, increased liver iron and hemochromatosis-associated HFE genotypes. At diagnosis, ...
... Your Care Instructions. Hemochromatosis is the buildup of iron in the body. The iron ... Hemochromatosis is a disease that can be passed from a parent to a child (inherited). Usually, people need an abnormal gene ... Symptoms of hemochromatosis often do not appear until a person is 40 to 60 years old. Treatment removes the excess iron from ... If you have hemochromatosis, your family members should tell their doctors. They will have to watch for the condition as well. ...
Transfusional Haemosiderosis Simulating Haemochromatosis Message subject: (Your Name) has forwarded a page to you from Journal ...
In France alone National Hemochromatosis Awareness Week is conducted, hemochromatosis affects 1 in 300 people... ... National Hemochromatosis Awareness Week June 02. Today we will tell you today is national what day. ...
Are there any hemochromatosis support groups I can contact?. For more information and support about Hemochromatosis visit the ... How is hemochromatosis diagnosed?. Hemochromatosis is typically diagnosed when iron-related markers in the blood such as " ... The symptoms of hemochromatosis vary, and many individuals with the genes that cause hemochromatosis do not develop iron ... Who typically has hemochromatosis?. Hemochromatosis is normally an inherited condition, sometimes termed Hereditary ...
Brissot et al., 2018Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE and Loréal O (2018) Haemochromatosis. Nat Rev ... 2018Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE and Loréal O (2018) Haemochromatosis. Nat Rev Dis Primers 4: ... 2011) Hereditary hemochromatosis: Mutations in genes involved in iron homeostasis in Brazilian patients. Blood Cells Mol Dis 46 ... 2011) Hereditary hemochromatosis: Mutations in genes involved in iron homeostasis in Brazilian patients. Blood Cells Mol Dis 46 ...
  • The genetic abnormalities leading to hemochromatosis are driven by the C282Y gene mutation. (medscape.com)
  • Patients who are C282Y/H63D compound heterozygous do not need to be monitored for hemochromatosis consequences. (medscape.com)
  • A New Public Health Assessment of the Disease Burden of Hereditary Hemochromatosis: How Clinically Actionable is C282Y Homozygosity? (cdc.gov)
  • The statement is true because C282Y and H63D are indeed two known gene mutations in Hemochromatosis. (proprofs.com)
  • I propose that hereditary hemochromatosis and in particular the common HFE C282Y mutation may represent an adaptation to decreased dietary iron in cereal grain-based Neolithic diets. (blogspot.com)
  • The hemochromatosis HFE gene-types commonly tested for are called 'C282Y' and 'H63D', though there are other rarer genes that can sometimes also cause iron overload. (perspectum.com)
  • About 85% of persons with well-established hemochromatosis are homozygous for the C282Y variant (type 1a hemochromatosis). (mhmedical.com)
  • The C282Y gene variant and hemochromatosis are uncommon in Black and Asian American populations. (mhmedical.com)
  • The test investigates the main causative variants of hereditary hemochromatosis (EE), which are three point variations capable of modifying the protein sequence: C282Y, found in 90% of affects in homozygous form, H63D and the less widespread S65C. (personalgenomics.it)
  • C282Y is the most common mutation causing hemochromatosis and is associated with the most severe symptoms. (geneancestry.com)
  • The principal mutation accounting for type 1 HFE hemochromatosis is a substitution of tyrosine for cysteine at position 282 on chromosome 6, resulting in a mutation designated as C282Y. (medscape.com)
  • [ 2 ] Homozygous C282Y hemochromatosis is the cause of 85%-90% of cases of iron overload. (medscape.com)
  • This mutation does not cause the iron overload by itself, and patients with it do not need to be monitored for primary hemochromatosis consequences. (medscape.com)
  • Primary Hemochromatosis is an autosomal recessive genetic disease, meaning a child must inherit a mutated HFE gene from both parents to develop the disease. (wikibooks.org)
  • There are a number of other gene mutations that cause symptoms similar to Primary Hemochromatosis known as non-HFE Hemochromatosis. (wikibooks.org)
  • This condition is called primary Hemochromatosis. (targetwoman.com)
  • Primary hemochromatosis is genetic, stemming from problems in the DNA of both parents. (shoregastro.com)
  • Infiltrative diseases such as sarcoidosis or amyloidosis, and rare genetic diseases such as Wilson disease, primary hemochromatosis, and alpha-1-antitrypsin deficiency, must be excluded. (cdc.gov)
  • Find out if you are at risk of hemochromatosis. (genexdiagnostics.com)
  • This DNA test identifies three specific changes in the HFE gene that are associated with an increased risk of hemochromatosis. (geneancestry.com)
  • H63D and S65C are two other mutations that occur in the HFE gene and can increase the risk of hemochromatosis, however often other precipitating factors (e.g. hepatitis or alcohol abuse) are also required before iron overload occurs. (geneancestry.com)
  • To be at an increased risk of hemochromatosis, two defective copies of the HFE gene need to be inherited. (geneancestry.com)
  • Additional modifying genes or other factors (e.g. alcohol abuse) are thought to contribute to the risk of hemochromatosis in genetically-susceptible individuals. (geneancestry.com)
  • Although the types of hemochromatosis vary in age at which they appear, the symptoms and complications of iron overload are the same in all. (msdmanuals.com)
  • There are two types of hemochromatosis, and its cause depends on the type diagnosed. (shoregastro.com)
  • The diagnosis of hemochromatosis is based on clinical features of the disease. (medscape.com)
  • Clinical suspicion and early diagnosis are essential in hemochromatosis. (medscape.com)
  • This analysis evaluates the impact of early diagnosis and iron removal on survival and complications in hereditary hemochromatosis. (nih.gov)
  • [2] This often slows the process of diagnosis, as other diseases are considered before Hemochromatosis. (wikibooks.org)
  • Those of European descent may choose to be tested for the hemochromatosis gene mutation to enable quicker diagnosis if symptoms develop. (wikibooks.org)
  • Pietrangelo A: Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. (karger.com)
  • However, the diagnosis of haemochromatosis can now be confirmed using direct HFE mutation testing. (bmj.com)
  • The identification of the haemochromatosis gene, 4 now referred to as HFE , 5 enables the performance of direct genetic testing for diagnosis. (bmj.com)
  • Genetic testing is a reliable technique of diagnosis of Hemochromatosis as this method became widely available. (targetwoman.com)
  • When liver failure is diagnosed in the first 1-2 days of life, neonatal hemochromatosis is by far the most common diagnosis. (medscape.com)
  • Failure to diagnose neonatal hemochromatosis, resulting in the family having subsequent children with the same diagnosis, could result in legal actions against the physician. (medscape.com)
  • Depending on your particular case, your physician may order diagnostic tests in order to confirm or deny a hemochromatosis diagnosis. (shoregastro.com)
  • If your physician has confirmed a hemochromatosis diagnosis, it requires medical intervention. (shoregastro.com)
  • The condition is sometimes confused with juvenile hemochromatosis, which is a hereditary hemochromatosis caused by mutations of a gene called hemojuvelin. (wikipedia.org)
  • Hereditary hemochromatosis is most commonly caused by certain variants in the HFE gene. (cdc.gov)
  • Another genetic subtype of hemochromatosis is the H63D gene mutation, which you see on your genetic profiles. (medscape.com)
  • But as a general rule, the H63D gene mutation does not cause the genetic consequence of hemochromatosis. (medscape.com)
  • Hereditary hemochromatosis (HH) attributable to mutations in the HFE gene is the most common autosomal recessive disorder among adults of northern European origin. (cdc.gov)
  • Hemochromatosis is an autosomal recessive disease caused in most cases by a pathogenic variant in the HFE gene on chromosome 6. (mhmedical.com)
  • Hereditary hemochromatosis affects women and men equally with respect to how the condition is inherited: you must inherit a mutated gene from each parent to have the condition and the gene involved in most forms of hereditary hemochromatosis, the HFE gene, is not located on the sex chromosomes. (23andme.com)
  • Type 1 hemochromatosis involves mutation of the HFE (homeostatic iron regulator) gene. (msdmanuals.com)
  • This blood test looks for the gene changes that cause hereditary hemochromatosis. (crozerhealth.org)
  • Approximately one in 9 persons have one abnormal Hemochromatosis gene which works out to 11% of the US population. (targetwoman.com)
  • Between 1/200 and 1/400 individuals have two abnormal genes for Hemochromatosis and no normal gene. (targetwoman.com)
  • HGE, a specific gene for hemochromatosis, has been identified. (diseases-conditions.org)
  • Most cases are caused by a genetic mutation in the hemochromatosis gene, HFE . (pediagenosis.com)
  • The clinical manifestations of hemochromatosis patients who are homozygous for the mutated HFE gene can be quite variable. (pediagenosis.com)
  • Among the hereditary forms, the most common is hereditary hemochromatosis (EE) type 1, also known as ""classic"" hemochromatosis, and is caused by variations in the HFE gene. (personalgenomics.it)
  • A high transferrin saturation suggests an excess of iron in the body, which can be a sign of conditions such as hereditary hemochromatosis or iron overload. (proprofs.com)
  • Hemochromatosis is typically diagnosed when iron-related markers in the blood such as " ferritin " and " transferrin saturation " are found to be raised during a blood test. (perspectum.com)
  • Transferrin Saturation in Hemochromatosis In hemochromatosis, an important lab marker is the transferrin saturation percentage. (hemochromatosishelp.com)
  • Other genetic mutations involved in iron homeostasis, which account for most of the remaining patients with inherited disorders of iron overload, include juvenile hemochromatosis (type 2), transferrin receptor 2 disease (type 3 hemochromatosis), and ferroportin disease (type 4 hemochromatosis). (medscape.com)
  • Type 1 hemochromatosis results from reduced hepcidin expression and increased iron absorption, exceeding the capacity of transferrin to transport iron. (medscape.com)
  • Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests that it may be alloimmune condition. (wikipedia.org)
  • The causes of neonatal hemochromatosis are still unknown, but recent research has led to the hypothesis that it is an alloimmune disease. (wikipedia.org)
  • This evidence along with other research indicates that neonatal hemochromatosis could be classified as a congenital alloimmune hepatitis. (wikipedia.org)
  • Based on the alloimmune cause hypothesis, a new treatment involving high-dose immunoglobulin to pregnant mothers who have had a previous pregnancy with a confirmed neonatal hemochromatosis outcome, has provided very encouraging results. (wikipedia.org)
  • Neonatal hemochromatosis (NH) is a syndrome of unknown origin characterized by congenital cirrhosis or fulminant hepatitis with hepatic and extra-hepatic iron deposits. (nih.gov)
  • Neonatal hemochromatosis is a syndrome in which severe liver disease of fetal or perinatal onset is associated with deposition of stainable iron in extrahepatic sites. (medscape.com)
  • Nonetheless, neonatal hemochromatosis is not a manifestation of HFE disease. (medscape.com)
  • Neonatal hemochromatosis is not a single disorder but is a syndrome with an unclear etiology. (medscape.com)
  • Suggest genetic counseling if the parents of a child with neonatal hemochromatosis desire to have another child. (medscape.com)
  • The exact cause of neonatal hemochromatosis is unknown. (medscape.com)
  • Four pieces of evidence suggest that neonatal hemochromatosis may be due to an acquired and persistent maternal factor. (medscape.com)
  • First, neonatal hemochromatosis recurs within sibships at a rate higher than expected for disorders transmitted in an autosomal recessive manner. (medscape.com)
  • Second, several kindreds are known in which mothers have given birth to children with neonatal hemochromatosis who were fathered by different men. (medscape.com)
  • Third, several kindreds are known in which parents of children with neonatal hemochromatosis had histories of exposure to blood with or without clinical hepatitis. (medscape.com)
  • Fourth, anecdotal evidence suggests that administering intravenous immunoglobulin during pregnancy in a woman who has already had an infant with neonatal hemochromatosis leads to a relatively favorable outcome. (medscape.com)
  • These data suggest mitochondrial disease, transplacental transmission of an infective (possibly viral) agent, or transplacental transmission of an antibody as a cause of at least some instances of neonatal hemochromatosis. (medscape.com)
  • Because neonatal hemochromatosis is a syndrome, any of these possibilities may be correct in a given family, and all of them must be considered. (medscape.com)
  • Neonatal hemochromatosis is rare. (medscape.com)
  • Adams PC, Searle J. Neonatal hemochromatosis: a case and review of the literature. (medscape.com)
  • Neonatal haemochromatosis: report of a patient with favourable outcome. (medscape.com)
  • Familial neonatal hemochromatosis with survival. (medscape.com)
  • Gestational alloimmune liver disease and neonatal hemochromatosis. (medscape.com)
  • Neonatal hemochromatosis [in French]. (medscape.com)
  • Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies. (medscape.com)
  • Babor F, Hadzik B, Stannigel H, Mayatepek E, Hoehn T. Successful management of neonatal hemochromatosis by exchange transfusion and immunoglobulin: a case report. (medscape.com)
  • Neonatal hemochromatosis: fetal liver disease leading to liver failure in the fetus and newborn. (medscape.com)
  • Neonatal hemochromatosis has been documented in Filipino, African American, Hong Kong Chinese, and white infants. (medscape.com)
  • Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems. (cdc.gov)
  • An estimated 9% (about 1 in 10) of men with hereditary hemochromatosis will develop severe liver disease. (cdc.gov)
  • Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives. (medlineplus.gov)
  • Chest radiography and echocardiography may be helpful in the evaluation of patients with hemochromatosis and cardiac disease. (medscape.com)
  • Surgical procedures are used to treat two important complications of hemochromatosis: end-stage liver disease and severe arthropathy. (medscape.com)
  • Juvenile hemochromatosis (JH) is an autosomal recessive disease causing iron overload before age 30 in both sexes. (nih.gov)
  • Cirrhosis is due to progressive iron deposition in the liver parenchyma, and it is one of the most common disease manifestations of the tissue damage caused by hemochromatosis. (medscape.com)
  • Most patients with hemochromatotic diabetes have other signs of hemochromatosis, such as liver disease or skin pigmentation. (medscape.com)
  • A person may develop acquired hemochromatosis from having many blood transfusions, certain blood disorders (such as thalassemia), or chronic liver disease or from taking excessive or unnecessary iron supplements. (stlukesonline.org)
  • Hemochromatosis is a disease that causes the body to absorb more Iron than it needs. (wikibooks.org)
  • [ 1 ] The distribution of extrahepatic iron mimics that observed in hepatic iron ( HFE ) disease, the most common form of hemochromatosis known in Europe and the Americas, and liver disease is common in late-stage HFE disease. (medscape.com)
  • Idiopathic hemochromatosis is an inherited and primary disease. (cun.es)
  • Hemochromatosis is a disease that can be passed from a parent to a child (inherited). (alberta.ca)
  • The symptoms of hemochromatosis vary, and many individuals with the genes that cause hemochromatosis do not develop iron overload, nor any related symptoms or disease. (perspectum.com)
  • Editor -Hereditary haemochromatosis (HH), a common autosomal recessive disease of iron metabolism, is more prevalent among populations of northern Europe with an affected rate of 1 in 200 to 400 and a carrier frequency of around 1 in 10. (bmj.com)
  • Hemochromatosis is a hereditary metabolic disease that affects up to one million Americans. (crozerhealth.org)
  • However, hereditary hemochromatosis should not be considered a disease of older people or men. (diseases-conditions.org)
  • A family history of liver disease, arthritis, diabetes, erectile dysfunction, and heart attacks can increase the risk of developing hemochromatosis. (shoregastro.com)
  • Hemochromatosis is a disease caused by an excessive load of iron resulting in the accumulation of metal within the body. (personalgenomics.it)
  • If the disease is detected early before organ damage has occurred, hemochromatosis is easily treated. (geneancestry.com)
  • Although individuals who inherit two defective HFE genes are at increased risk of developing hemochromatosis, many will not show any disease symptoms. (geneancestry.com)
  • Hereditary hemochromatosis (HH) is a common genetic disease with autosomal recessive inheritance that results in iron overload and subsequent deposition into various tissues. (unboundmedicine.com)
  • Some organ damage can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy. (medlineplus.gov)
  • Once diagnosed, hemochromatosis is treated by phlebotomy to rid the body of excess iron and to maintain normal iron stores. (medscape.com)
  • Phlebotomy remains the sole recommended treatment for hereditary hemochromatosis and should be undertaken in a case-specific manner. (medscape.com)
  • Therapeutic phlebotomy is the preferred treatment for reducing iron stores in hemochromatosis patients. (emofree.com)
  • In certain conditions, such as iron overload disorders like hemochromatosis, removing excess iron from the body through phlebotomy can be an effective treatment. (proprofs.com)
  • Phlebotomy (venesection or 'blood letting') is the currently recommended treatment for hereditary haemochromatosis. (qxmd.com)
  • Thus, the results from this study suggest that women can suffer overt symptoms of hereditary hemochromatosis and at roughly the same age as men. (23andme.com)
  • Signs and symptoms of hereditary hemochromatosis usually appear in midlife, although they may occur earlier. (diseases-conditions.org)
  • This Hemochromatosis which is known as iron overload, bronze diabetes, hereditary Hemochromatosis and familial Hemochromatosis. (targetwoman.com)
  • That's because hereditary hemochromatosis causes your body to absorb too much iron from the food you eat. (diseases-conditions.org)
  • Hemochromatosis may be a genetic disorder passed down through families. (medlineplus.gov)
  • Hemochromatosis is a genetic disorder characterized by iron overload, which can cause damage to various organs if left untreated. (proprofs.com)
  • Hereditary haemochromatosis is a genetic disorder related to proteins involved in iron transport, resulting in iron load and deposition of iron in various tissues of the body. (qxmd.com)
  • Hemochromatosis is a fairly common autosomal recessive genetic disorder of iron metabolism that leads to excessive iron absorption and eventually iron overload. (pediagenosis.com)
  • Hereditary hemochromatosis is the most common genetic disorder in the western world, with 1 in 9 people of European ancestry carrying one of the HFE mutations linked to hemochromatosis. (geneancestry.com)
  • Hemochromatosis is the most common genetic disorder for individuals of European descent. (geneancestry.com)
  • Hereditary hemochromatosis is a genetic disorder characterized by excessive iron (Fe) accumulation that results in tissue damage. (liverpatientsinternational.org)
  • [ 69 ] The type of mutations for hereditary hemochromatosis, ferritin level, or the presence of cirrhosis were not predictive for diabetes mellitus development. (medscape.com)
  • This past week, I saw a patient with hemochromatosis. (medscape.com)
  • Click here to read an account from a patient with Hemochromatosis who took part in the Patient LiverMultiScan study. (perspectum.com)
  • Sudden Severe Bleeding in a Patient with Hemochromatosis: Liver Failure or Something Else? (bvsalud.org)
  • How can you prevent complications from hemochromatosis? (cdc.gov)
  • A study published in the late 1990's with 176 women and 176 men with hemochromatosis, matched by age, found that a significant number of the women suffered serious complications from hemochromatosis, and developed their first symptoms only a little later than the men. (23andme.com)
  • H63D homozygotes do not develop hemochromatosis but may be at increased risk for amyotrophic lateral sclerosis, and carriers may be at increased risk for non-cardia gastric cancer. (mhmedical.com)
  • The most common form of hemochromatosis is passed down through the genes in families. (stlukesonline.org)
  • Prognosis of hemochromatosis and most of its complications, including liver cancer, depend on the amount and duration of iron excess. (nih.gov)
  • Haemochromatosis is characterized by excess iron in the body. (targetwoman.com)
  • Hemochromatosis is defined as a metabolic disorder affecting iron absorption, and resulting in the accumulation of excess iron in the body's organs. (foodmineral.com)
  • Excess iron accumulation occurs in affected individuals from a young age, but the symptoms of hemochromatosis do not appear until later in life. (geneancestry.com)
  • Hereditary HFE hemochromatosis accounts for most cases of excess body iron that result from increased iron absorption. (medscape.com)
  • In rare cases, a person may develop hemochromatosis if his or her diet contains too much iron. (stlukesonline.org)
  • In rare cases, a person may develop hemochromatosis if their diet contains too much iron. (wellspan.org)
  • Patients with hereditary hemochromatosis may be asymptomatic (75%) or may present with general and organ-related signs and symptoms. (medscape.com)
  • Most patients are asymptomatic and are diagnosed when elevated serum iron levels are noted on a routine chemistry screening panel or when screening is performed because a relative is diagnosed with hemochromatosis. (medscape.com)
  • The use of liver biopsy in hereditary hemochromatosis can be restricted to those patients with a high probability of severe fibrosis or cirrhosis. (medscape.com)
  • The guidelines recommend that patients with hemochromatosis minimize vitamin C exposure, particularly supplemental vitamin C, which may accelerate iron absorption. (medscape.com)
  • The guidelines recommend not placing patients on PPIs proactively as the primary treatment for hemochromatosis, but if they need PPIs for other reasons, it's certainly justifiable and can be done. (medscape.com)
  • A Cohort of 251 patients with hemochromatosis was followed up for 14.1 +/- 6.8 years. (nih.gov)
  • This condition is also the most common cause of death in patients with hereditary hemochromatosis. (medscape.com)
  • In one study, the prevalence of diabetes mellitus was 21.9% in patients with hereditary hemochromatosis. (medscape.com)
  • Amenorrhea, loss of libido, impotence, and symptoms of hypothyroidism can be seen in patients with hereditary hemochromatosis. (medscape.com)
  • We present here the results from the study of 17 patients diagnosed of idiopathic hemochromatosis over a seven year period in the University Clinic of Navarra. (cun.es)
  • We present 2 patients with hyperferritinemia, increased liver iron and hemochromatosis-associated HFE genotypes. (karger.com)
  • What do patients with hemochromatosis say about Liver MultiScan ? (perspectum.com)
  • As it is an autosomal recessive condition, siblings of the Hemochromatosis patients are at 25% risk to be affected as well. (targetwoman.com)
  • Patients suffering from Haemochromatosis must limit the consumption of iron. (targetwoman.com)
  • The incidence of diabetes is approximately 50% in symptomatic patients, and the risk is increased in heterozygotes for hereditary hemochromatosis. (foodmineral.com)
  • It is the intestines' job to absorb iron, but in patients with hemochromatosis, too much iron is absorbed, and it begins to build up in vital organs, such as the pancreas, liver, and heart. (shoregastro.com)
  • Classic hemochromatosis includes three main components: liver cirrhosis, diabetes, and generalized skin pigmentation. (pediagenosis.com)
  • Hundreds of thousands of people carry the genetics associated with hereditary hemochromatosis, yet many have no idea. (hemochromatosishelp.com)
  • Go to Hemochromatosis and Dermatologic Manifestations of Hemochromatosis for complete information on these topics. (medscape.com)
  • Hemochromatosis is a hereditary disorder that causes the body to absorb too much iron, causing iron to build up in the body and damage organs. (msdmanuals.com)
  • Its characteristics are similar to hereditary hemochromatosis, where iron deposition causes damage to the liver and other organs and tissues. (wikipedia.org)
  • Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. (medscape.com)
  • Hereditary Hemochromatosis (HH) is an inherited iron storage disorder in which the body builds up too much iron, damaging tissues and organs. (cdc.gov)
  • Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. (scielo.br)
  • Hemochromatosis is a condition that occurs when too much iron builds up in the body. (stlukesonline.org)
  • Hemochromatosis occurs if tissue injury is associated. (fundacionmapfre.org)
  • Secondary Hemochromatosis occurs when abnormal red blood cells in the body are destroyed and iron is released. (targetwoman.com)
  • Hemochromatosis occurs when there are high pathologic levels of iron accumulation in the body. (foodmineral.com)
  • Hyperferritinemia is seen in hemochromatosis. (medscape.com)
  • In many cases, Hemochromatosis is caused due to an inherited abnormality that causes the body to increase absorption of iron from the intestine. (targetwoman.com)
  • In people with hereditary hemochromatosis, this absorption rate can reach 4-5 mg per day with progressive accumulation to 15-40 grams of iron in the body. (foodmineral.com)
  • There are 4 types of hereditary hemochromatosis, which all involve mutations that impair the ability of the body to inhibit iron absorption when iron stores are excessive. (liverpatientsinternational.org)
  • In preparing for my discussion with him, I had a valuable resource at hand in the recently published clinical guideline on hereditary hemochromatosis from the American College of Gastroenterology, authored by Dr Kris Kowdley and colleagues. (medscape.com)
  • We searched the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, Science Citation Index Expanded, World Health Organization International Clinical Trials Registry Platform, and randomised clinical trials registers to March 2016 to identify randomised clinical trials on treatments for hereditary haemochromatosis. (qxmd.com)
  • We included only randomised clinical trials (irrespective of language, blinding, or publication status) in participants with hereditary haemochromatosis. (qxmd.com)
  • Medicine Central , im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/116259/all/Hemochromatosis. (unboundmedicine.com)
  • Early symptoms of hemochromatosis, such as feeling tired or weak, are common and can cause it to be confused with a variety of other diseases. (cdc.gov)
  • Hereditary hemochromatosis is one of the most common genetic conditions in white people, especially those of Northern European descent. (stlukesonline.org)
  • Hemochromatosis is most common in people of northern European decent, affecting around 1 in 250 people. (wikibooks.org)
  • Hemochromatosis shares a lot of symptoms with other common diseases. (wikibooks.org)
  • Hereditary hemochromatosis is a common genetic condition that makes a person more prone to absorbing too much iron. (23andme.com)
  • Women should take note that the symptoms of menopause and hemochromatosis can sometimes overlap, for instance fatigue is common to both. (23andme.com)
  • Hemochromatosis afflicts nearly 1.5 million people in the United States and it is one of the most common genetic disorders in the US. (targetwoman.com)
  • The iron overload can cause many health problems, most frequently a form of diabetes that's often resistant to insulin treatment The most common complaint is joint pain, but hereditary hemochromatosis can also cause a number of other symptoms, including fatigue, abdominal pain and impotence. (diseases-conditions.org)
  • The most common cause of secondary hemochromatosis is frequent blood transfusions in people with severe anemia. (foodmineral.com)
  • Hemochromatosis is more common in Caucasians of Northern European descent. (shoregastro.com)
  • Also, hemochromatosis develops over a long period of time, so it is more common in older adults. (shoregastro.com)
  • These mutations are the most common hemochromatosis-causing mutations in individuals of Northern European ancestry. (geneancestry.com)
  • How common is hemochromatosis? (geneancestry.com)
  • Hemochromatosis: More Common Than You Think? (medscape.com)
  • Excessive alcohol intake and viral hepatitis accelerate the pathology associated with hemochromatosis, especially with respect to liver and pancreatic toxicity. (foodmineral.com)
  • Acquired (secondary) hemochromatosis. (stlukesonline.org)
  • Secondary hemochromatosis is caused either by other conditions and diseases or from receiving medical treatments. (shoregastro.com)
  • Haemochromatosis can lead to heart failure or abnormal heart rhythms. (targetwoman.com)
  • 5% of cirrhosis cases are caused by hereditary Hemochromatosis. (targetwoman.com)
  • Hereditary hemochromatosis requires treatment throughout a person's life. (stlukesonline.org)