A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice.
A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
The comparative and theoretical study of culture, often synonymous with cultural anthropology.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
The condition of being heterozygous for hemoglobin S.
Electrophoresis applied to BLOOD PROTEINS.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.

"In vivo" and "in vitro" demonstration of hemoglobin C crystals in non-splenectomized patients. (1/48)

We studied 12 Hb C carriers: 4 homozygotic Hb CC and 8 heterozygotic. We observed the presence of free crystals in the peripheral blood of the homozygotes but in none of the heterozygotes. However, after incubation with 3% NaCl we were able to detect crystals in the heterozygotes (Hb AC and Hb SC), and in the homozygotes (Hb CC). In patient 04 (P04) less crystals formation occurred due to inhibition of the process by the presence of elevated levels of Hb F (12.2%). All the homozygotic patients had a splenomegaly of 3 to 6 fingerbreadths. We believe that the spleen wears off with time, thus allowing the passage of crystals to the peripheral blood. This finding might be associated with splenic insufficiency without a reduction of its dimensions. Finally, the finding of crystals in the peripheral blood permitted the diagnosis of Hb C obviating the need for electrophoresis.  (+info)

Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S. (2/48)

The malaria hypothesis proposes a survival advantage for individuals with hemoglobin variants in areas of endemic Plasmodium falciparum malaria. Hemoglobin C (HbC) is a possible example in West Africa, where this hemoglobin has a centric distribution with high frequencies among certain populations including the Dogon ethnic group. To test whether HbC is associated with protection from malaria, we performed a case-control study in the Dogon of Bandiagara, Mali. HbC was present in 68 of 391 (17.4%) of uncomplicated malaria control cases, whereas it was detected in only 3 of 67 cases (4.5%) of severe malaria (odds ratio [OR], 0.22; P =. 01). Further, HbC was present in only 1 of 34 cases (2.9%) with cerebral manifestations, the most common presentation of severe malaria in this population (OR, 0.14; P =.03). Episodes of uncomplicated malaria and parasitemias (4800-205 050/microL) were identified in cases of homozygous HbC (HbCC), which indicates that P falciparum parasites are able to efficiently replicate within HbCC erythrocytes in vivo. These findings suggest that HbC does not protect against infection or uncomplicated malaria but can protect against severe malaria in the Dogon population of Bandiagara, Mali. The data also suggest that the protective effect associated with HbC may be greater than that of HbS in this population.  (+info)

Red cell life span in sickle cell-hemoglobin C disease with a note about sickle cell-hemoglobin O ARAB. (3/48)

Red cell survival was measured in ten subjects with S-C disease and one with S-O Arab (alpha 2 beta 2-121 glu yields lys) disease using both DF32p and 51Cr as tags. Red cell volume was slightly reduced in most patients (87% plus or minus 20% of predicted normal). In nine SC patients, mean red cell life (DF32p) was 28.9 plus or minus 4.0 days. For one SC subject it was significantly longer (47.9 days), as it was for the one with S-O Arab. The S-O Arab subject had irreversibly sickled cells in the peripheral blood, shereas those with SC had few (less than 1/1000 red cells) or none. The S-O Arab hemolysate gelled at a hemmoglobin concentration (16.2 g/100ml) near that for sickle cell anemia hemolysates (15.9 plus or minus 1.0 g/100 ml; n equals 8) but significantly lower than that for SC hemolysates (21.6 plus or minus 1.9 g/100 ml; n equals 5). It seems likely that properties of S-C red cells other than their relative ease of sickling contribute significantly to their rate of hemolysis.  (+info)

Multiple major retinal vascular occlusions in sickle cell haemoglobin C disease. (4/48)

A case of multiple occlusions of different sized arterioles involving the central area of the fundus has been reported in a patient suffering from sickle cell haemoglobin C disease (SC).  (+info)

Aberrant development of Plasmodium falciparum in hemoglobin CC red cells: implications for the malaria protective effect of the homozygous state. (5/48)

Although selection of hemoglobin C (HbC) by malaria has been speculated for decades, only recently have epidemiologic studies provided support for HbC protection against malaria in West Africa. A reduced risk of malaria associated with the homozygous CC state has been attributed to the inability of CC cells to support parasite multiplication in vitro. However, there have been conflicting data and conclusions regarding the ability of CC red cells to support parasite replication. Reports that parasites cannot multiply in CC cells in vitro contrast with detection of substantial parasite densities in CC patients with malaria. We have therefore investigated Plasmodium falciparum growth in CC cells in vitro. Our data show that the multiplication rate of several P falciparum lines is measurable in CC cells, but lower than that in AA (HbA-normal) cells. A high proportion of ring forms and trophozoites disintegrates within a subset of CC cells, an observation that accounts for the overall lower replication rate. In addition, knobs present on the surface of infected CC cells are fewer in number and morphologically aberrant when compared with those on AA cells. Events in malaria pathogenesis that involve remodeling of the erythrocyte surface and the display of parasite antigens may be affected by these knob abnormalities. Our data suggest that only a subset of CC cells supports normal parasite replication and that components of malaria protection associated with the CC state may affect the parasite's replication capacity and involve aberrant knob formation on CC cells.  (+info)

Association between haemoglobin variants S and C and Mycobacterium ulcerans disease (Buruli ulcer): a case-control study in Benin. (6/48)

Risk factors for Buruli ulcer (BU) are poorly understood. We conducted a case-control study in southern Benin to investigate the association between haemoglobin variants S or C and BU, and particularly the association between haemoglobinopathies HbSS/SC and BU osteomyelitis. We compared the haemoglobin genotype of 179 patients with BU and 44 with BU osteomyelitis to that of 242 community controls. We found no evidence of an increased risk of BU according to the presence of haemoglobin variants S and/or C [odds ratio adjusted for sex, age, region of residence and ethnicity: 1.24 (95% CI: 0.80-1.93), P = 0.34]. Haemoglobin variants S and C are unlikely to play a role in the BU burden. However, haemoglobinopathies HbSS/SC were more frequent among BU osteomyelitis patients than among controls (6.8% vs. 1.0%, Fisher's exact P-value = 0.045), which may suggest that those disorders facilitate growth of Mycobacterium ulcerans in the bone matrix.  (+info)

Heme degradation and oxidative stress in murine models for hemoglobinopathies: thalassemia, sickle cell disease and hemoglobin C disease. (7/48)

 (+info)

Effects of hemoglobin C and S traits on the results of 14 commercial glycated hemoglobin assays. (8/48)

 (+info)

Hemoglobin C disease is a genetic disorder that affects the structure and function of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disease is caused by a mutation in the gene that produces the beta-globin chain of hemoglobin, resulting in the production of an abnormal form of hemoglobin called Hemoglobin C (HbC).

People with Hemoglobin C disease inherit one copy of the HbC gene from each parent. This means they have two copies of the mutated gene and produce mostly Hemoglobin C, instead of the normal Hemoglobin A. The presence of Hemoglobin C can cause the red blood cells to become rigid and fragile, leading to a condition called hemolytic anemia.

Symptoms of Hemoglobin C disease may include fatigue, weakness, shortness of breath, pale skin, jaundice, and dark urine. The severity of the symptoms can vary widely from person to person, with some individuals experiencing mild symptoms and others having more severe complications.

Hemoglobin C disease is a chronic condition that requires ongoing medical management, including regular monitoring of hemoglobin levels, iron status, and other blood parameters. Treatment may include blood transfusions, folic acid supplementation, and medications to manage symptoms such as anemia and pain.

It's important to note that Hemoglobin C disease is not the same as sickle cell disease, which is another genetic disorder that affects hemoglobin structure and function. While both conditions can cause hemolytic anemia, they are caused by different mutations in the beta-globin gene and have distinct clinical features and management approaches.

Hemoglobin C is a type of hemoglobin variant, which is the oxygen-carrying protein in red blood cells. Hemoglobin C is caused by a specific genetic mutation that results in the substitution of lysine for glutamic acid at position 6 on the beta globin chain of the hemoglobin molecule.

This variant is often associated with a benign condition known as hemoglobin C trait, where an individual inherits one copy of the mutated gene from one parent and one normal gene from the other parent. People with this trait usually have no symptoms or only mild anemia, if any. However, if an individual inherits two copies of the Hemoglobin C gene (one from each parent), they will have a more severe form of hemoglobin disorder called Hemoglobin CC disease, which can cause mild to moderate hemolytic anemia and other complications.

It's important to note that Hemoglobin C is most commonly found in people of West African descent, but it can also occur in other populations with African ancestry.

Hemoglobinopathies are a group of genetic disorders characterized by structural or functional abnormalities of the hemoglobin molecule in red blood cells. Hemoglobin is a complex protein that plays a crucial role in carrying oxygen throughout the body. The two most common types of hemoglobinopathies are sickle cell disease and thalassemia.

In sickle cell disease, a single mutation in the beta-globin gene results in the production of an abnormal form of hemoglobin called hemoglobin S (HbS). When deoxygenated, HbS molecules tend to aggregate and form long polymers, causing the red blood cells to become sickle-shaped, rigid, and fragile. These abnormally shaped cells can block small blood vessels, leading to tissue damage, chronic pain, organ dysfunction, and other serious complications.

Thalassemias are a heterogeneous group of disorders caused by mutations in the genes that regulate the production of alpha- or beta-globin chains. These mutations result in reduced or absent synthesis of one or more globin chains, leading to an imbalance in hemoglobin composition and structure. This imbalance can cause premature destruction of red blood cells (hemolysis), resulting in anemia, jaundice, splenomegaly, and other symptoms.

Hemoglobinopathies are typically inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the abnormal gene – one from each parent. Carriers of a single abnormal gene usually do not show any signs or symptoms of the disorder but can pass the abnormal gene on to their offspring.

Early diagnosis and appropriate management of hemoglobinopathies are essential for improving quality of life, reducing complications, and increasing survival rates. Treatment options may include blood transfusions, iron chelation therapy, antibiotics, pain management, and, in some cases, bone marrow transplantation or gene therapy.

Hemoglobin SC disease, also known as sickle cell-C disease or SC disorder, is a genetic blood disorder that is a variant of sickle cell anemia. It is caused by the presence of both hemoglobin S (HbS) and hemoglobin C (HbC) in the red blood cells.

Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In Hemoglobin SC disease, the abnormal HbS and HbC proteins can cause the red blood cells to become rigid, sticky, and C-shaped (sickled), which can lead to blockages in small blood vessels.

Symptoms of Hemoglibin SC disease may include anemia, fatigue, jaundice, episodes of pain (known as sickle cell crises), and an increased risk of infection. The severity of the symptoms can vary widely from person to person. Treatment typically focuses on managing symptoms and preventing complications, and may include medications, blood transfusions, and sometimes a bone marrow transplant.

Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.

People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.

There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.

Hemoglobin (Hb or Hgb) is the main oxygen-carrying protein in the red blood cells, which are responsible for delivering oxygen throughout the body. It is a complex molecule made up of four globin proteins and four heme groups. Each heme group contains an iron atom that binds to one molecule of oxygen. Hemoglobin plays a crucial role in the transport of oxygen from the lungs to the body's tissues, and also helps to carry carbon dioxide back to the lungs for exhalation.

There are several types of hemoglobin present in the human body, including:

* Hemoglobin A (HbA): This is the most common type of hemoglobin, making up about 95-98% of total hemoglobin in adults. It consists of two alpha and two beta globin chains.
* Hemoglobin A2 (HbA2): This makes up about 1.5-3.5% of total hemoglobin in adults. It consists of two alpha and two delta globin chains.
* Hemoglobin F (HbF): This is the main type of hemoglobin present in fetal life, but it persists at low levels in adults. It consists of two alpha and two gamma globin chains.
* Hemoglobin S (HbS): This is an abnormal form of hemoglobin that can cause sickle cell disease when it occurs in the homozygous state (i.e., both copies of the gene are affected). It results from a single amino acid substitution in the beta globin chain.
* Hemoglobin C (HbC): This is another abnormal form of hemoglobin that can cause mild to moderate hemolytic anemia when it occurs in the homozygous state. It results from a different single amino acid substitution in the beta globin chain than HbS.

Abnormal forms of hemoglobin, such as HbS and HbC, can lead to various clinical disorders, including sickle cell disease, thalassemia, and other hemoglobinopathies.

Hemoglobin A is the most common form of hemoglobin, which is the oxygen-carrying protein in red blood cells. Hemoglobin A is a tetramer composed of two alpha and two beta globin chains, each containing a heme group that binds to oxygen. It is typically measured in laboratory tests to assess for various medical conditions such as anemia or diabetes. In the context of diabetes, the measurement of hemoglobin A1c (a form of hemoglobin A that is glycated or bound to glucose) is used to monitor long-term blood sugar control.

Hemoglobin S (HbS) is a genetic variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This abnormal form of hemogllobin results from a mutation in the beta-globin gene, leading to the substitution of valine for glutamic acid at position six of the beta-globin chain.

In individuals with sickle cell disease (a group of inherited red blood cell disorders), both copies of their beta-globin genes carry this mutation, causing the majority of their hemoglobin to be HbS. When deoxygenated, HbS molecules have a tendency to polymerize and form long, rigid rods within the red blood cells, distorting their shape into a characteristic sickle or crescent form.

These sickled red blood cells are less flexible and more prone to rupture (hemolysis), leading to chronic anemia, vaso-occlusive crises, and other disease complications. Sickle cell disease primarily affects people of African, Mediterranean, Middle Eastern, and Indian ancestry, but it can also be found in other populations worldwide.

Niemann-Pick Disease, Type C (NPC) is a rare, progressive, and fatal neurovisceral lipid storage disorder caused by mutations in the NPC1 or NPC2 genes. These genetic defects result in impaired intracellular transport of cholesterol and other lipids, leading to excessive accumulation within lysosomes of various tissues, particularly in the brain, liver, spleen, and lungs.

The disease primarily affects children, although late-onset forms have been reported in adults. The symptoms and severity can vary widely among patients but often include neurological manifestations such as ataxia, dysarthria, dysphagia, cognitive decline, seizures, and vertical supranuclear gaze palsy (VSGP). Other features may involve visceral involvement like hepatosplenomegaly, jaundice, or pulmonary complications.

There is currently no cure for NPC, but treatments aim to manage symptoms, slow disease progression, and improve quality of life. Miglustat and cyclodextrin (HPβCD) are two FDA-approved therapeutic options that have shown some promise in stabilizing or delaying neurological decline in NPC patients. Early diagnosis and intervention are crucial for optimizing outcomes and providing appropriate supportive care.

Niemann-Pick diseases are a group of inherited metabolic disorders characterized by the accumulation of lipids, particularly sphingomyelin and cholesterol, within cells due to deficiencies in certain enzymes. These diseases are caused by mutations in the SMPD1, NPC1, or NPC2 genes, among others. There are four main types of Niemann-Pick disease (Types A, B, C, and D), each with varying severity and symptoms.

Type A and Type B diseases, also known as Acid Sphingomyelinase Deficiency or ASMD, result from mutations in the SMPD1 gene leading to a deficiency of acid sphingomyelinase enzyme. This causes excessive accumulation of sphingomyelin in various tissues, particularly in the liver, spleen, lungs, and brain.

Type A is the most severe form, typically presenting in infancy with symptoms such as developmental delay, feeding difficulties, enlarged liver and spleen, lung infection, and progressive neurological degeneration, which often leads to early death, usually before age 3.

Type B has a broader range of severity and onset, from infancy to adulthood. Symptoms may include enlarged liver and spleen, lung disease, poor growth, and varying degrees of neurological impairment. Type B patients can survive into adolescence or adulthood, depending on the severity of their symptoms.

Type C and Type D diseases, also known as Niemann-Pick Type C Disease (NPC), are caused by mutations in either the NPC1 or NPC2 genes, leading to defective intracellular lipid transport. This results in excessive accumulation of cholesterol and other lipids within cells, particularly in the brain, liver, spleen, and lungs.

Type C typically presents in childhood but can also manifest in adolescence or adulthood. Symptoms include progressive neurological degeneration, ataxia, seizures, dementia, problems with speech and swallowing, and yellowish skin (jaundice) at birth or during infancy due to liver involvement. Type C patients usually have a shorter life expectancy, often surviving into their teens, twenties, or thirties.

Type D is a subtype of NPC that affects people of Nova Scotian descent and has similar symptoms to Type C but with an earlier onset and faster progression.

Ethnology is a branch of anthropology that focuses on the systematic study of the cultural, biological, social, and linguistic diversity of human groups both past and present. It involves the comparison and analysis of different ethnic groups, their customs, beliefs, and practices, with the aim of understanding the underlying patterns and processes that shape human culture and society.

In a medical context, ethnology can be used to study the cultural factors that influence health outcomes and healthcare practices among different populations. This may include examining traditional healing systems, attitudes towards illness and disease, and the social determinants of health in different ethnic groups. The insights gained from such research can help inform the development of culturally sensitive healthcare policies and interventions that are tailored to the needs of diverse communities.

Fetal hemoglobin (HbF) is a type of hemoglobin that is produced in the fetus and newborn babies. It is composed of two alpha-like globin chains and two gamma-globin chains, designated as α2γ2. HbF is the primary form of hemoglobin during fetal development, replacing the embryonic hemoglobin (HbG) around the eighth week of gestation.

The unique property of HbF is its higher affinity for oxygen compared to adult hemoglobin (HbA), which helps ensure adequate oxygen supply from the mother to the developing fetus. After birth, as the newborn starts breathing on its own and begins to receive oxygen directly, the production of HbF gradually decreases and is usually replaced by HbA within the first year of life.

In some genetic disorders like sickle cell disease and beta-thalassemia, persistence of HbF into adulthood can be beneficial as it reduces the severity of symptoms due to its higher oxygen-carrying capacity and less polymerization tendency compared to HbS (in sickle cell disease) or unpaired alpha chains (in beta-thalassemia). Treatments like hydroxyurea are used to induce HbF production in these patients as a therapeutic approach.

Sickle cell trait is a genetic condition where an individual inherits one abnormal gene for hemoglobin S (HbS) from one parent and one normal gene for hemoglobin A (HbA) from the other parent. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.

People with sickle cell trait do not have sickle cell disease, but they can pass the abnormal HbS gene on to their children. In certain situations, such as high altitude, low oxygen levels, or intense physical exertion, individuals with sickle cell trait may experience symptoms similar to those of sickle cell disease, such as fatigue, pain, and shortness of breath. However, these symptoms are typically milder and less frequent than in people with sickle cell disease.

It is important for individuals who know they have sickle cell trait to inform their healthcare providers, especially if they become pregnant or plan to engage in activities that may cause low oxygen levels, such as scuba diving or high-altitude climbing.

Blood protein electrophoresis (BPE) is a laboratory test that separates and measures the different proteins in the blood, such as albumin, alpha-1 globulins, alpha-2 globulins, beta globulins, and gamma globulins. This test is often used to help diagnose or monitor conditions related to abnormal protein levels, such as multiple myeloma, macroglobulinemia, and other plasma cell disorders.

In this test, a sample of the patient's blood is placed on a special gel and an electric current is applied. The proteins in the blood migrate through the gel based on their electrical charge and size, creating bands that can be visualized and measured. By comparing the band patterns to reference ranges, doctors can identify any abnormal protein levels or ratios, which may indicate underlying medical conditions.

It's important to note that while BPE is a useful diagnostic tool, it should be interpreted in conjunction with other clinical findings and laboratory tests for accurate diagnosis and management of the patient's condition.

Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).

Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.

There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.

Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

MedlinePlus is not a medical term, but rather a consumer health website that provides high-quality, accurate, and reliable health information, written in easy-to-understand language. It is produced by the U.S. National Library of Medicine, the world's largest medical library, and is widely recognized as a trusted source of health information.

MedlinePlus offers information on various health topics, including conditions, diseases, tests, treatments, and wellness. It also provides access to drug information, medical dictionary, and encyclopedia, as well as links to clinical trials, medical news, and patient organizations. The website is available in both English and Spanish and can be accessed for free.

... is often not life-threatening and there is no known effective treatment. Hemoglobin M disease is a ... Cyanosis is the most common sign of hemoglobin M disease, which can be observed in all kinds of hemoglobin M diseases. It is ... Dark brown blood is another major sign of hemoglobin M disease. Hemoglobin M diseases caused by different HbM variants may have ... Hemoglobin M disease is a rare form of hemoglobinopathy, characterized by the presence of hemoglobin M (HbM) and elevated ...
Hemoglobin H (Hb H) Disease, also called alpha-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying ... Patients with Hemoglobin H Disease present with chronic hemolytic anemia that ranges in severity form mild to moderate disease ... in severe cases the disease can affect fetal development. The prevalence of Hemoglobin H disease mirrors that of the ... Hemoglobin H disease is a genetic disorder resulting in absent or impaired production of the α-globin protein, a normal ...
... drop in hemoglobin levels due to blood loss, or other diseases. The most severe form of α -thalassemia is a condition that ... Hemoglobin Hemoglobin variants: Hb A1C Hemoglobin A2 Hemoglobin C Hemoglobin F Hemoglobin O Hemoglobin protein subunits (genes ... This hemoglobin makes up 1-3% of hemoglobin in adults. Hemoglobin A (HbA) is the most common adult form of hemoglobin and ... Hemoglobin A (HbA), also known as adult hemoglobin, hemoglobin A1 or α2β2, is the most common human hemoglobin tetramer, ...
The hemoglobin proteins, present in those with sickle cell disease, cannot carry oxygen to the organs and other tissues of the ... Hemoglobin S is the most common abnormal hemoglobin variant. Hemoglobin S is the variant that causes sickle cell, which is a ... Hemoglobin S has two beta chains, whereas hemoglobin Hopkins-2 has two alpha chains. Hopkins-2 makes up 22% of hemolysates in ... Hemoglobin Hopkins-2 (Hb Hop-2) is a mutation of the protein hemoglobin, which is responsible for the transportation of oxygen ...
This is called hemoglobin E trait, and it is not a disease. People who have hemoglobin E trait (heterozygous) are asymptomatic ... Compound heterozygotes with sickle-hemoglobin E disease result when the gene of hemoglobin E is inherited from one parent and ... fetal hemoglobin). In the first months of life, fetal hemoglobin disappears and the amount of hemoglobin E increases, so the ... "Sickle-Hemoglobin E Disease Fact Sheet" (PDF). Badat, M; Ejaz, A; Hua, P; Rice, S; Zhang, W; Hentges, LD; Fisher, CA; Denny, N ...
Zhu C, Yu W, Xie J, Chen L, Ding H, Shang X, Xu X (Oct 2010). "Hemoglobin H disease due to a de novo mutation at the α2-globin ... Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin. The human alpha ... Deletion of all 4 alleles is lethal because it renders the body unable to make fetal hemoglobin (HbF), adult hemoglobin (HbA) ... "Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients". Acta Haematologica. 124 (2): 86-91 ...
Thus Hemoglobin SC disease is significantly more common than Hemoglobin CC disease. The trait also affects people whose ... Individuals with hemoglobin C disease have sporadic episodes of musculoskeletal (joint) pain. People with hemoglobin C disease ... The hemoglobin was named hemoglobin III, but hemoglobin C was eventually used. By 1954, it was found that the mutant hemoglobin ... Their red blood cells contain both hemoglobin C and either normal hemoglobin A or hemoglobin S. Hemoglobin C mutation is an ...
Abnormal forms that occur in diseases: Hemoglobin D-Punjab - (α2βD2) - A variant form of hemoglobin. Hemoglobin H (β4) - A ... Excessive glucose in the blood can attach to hemoglobin and raise the level of hemoglobin A1c. Hemoglobin and hemoglobin-like ... Hemoglobin S (α2βS2) - A variant form of hemoglobin found in people with sickle cell disease. There is a variation in the β- ... Hemoglobin AS - A heterozygous form causing sickle cell trait with one adult gene and one sickle cell disease gene Hemoglobin ...
... -Padova is the most severe form and is associated with disease of the RBCs and spleen. Hemoglobin O Indonesia is ... The hemoglobin is now known as hemoglobin O-Arab. In 1974, another abnormal hemoglobin which they called hemoglobin O-Padova ... Hemoglobin O (HbO) is a rare type of hemoglobin in which there is a substitution of glutamic acid by lysine as in hemoglobin C ... The hemoglobin was eventually named hemoglobin O Indonesia. In 1960, a different but related hemoglobin was found from an 8- ...
Sickle cell disease is closely related to another mutant haemoglobin called haemoglobin C (HbC), because they can be inherited ... Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB ... HBB interacts with Haemoglobin, alpha 1 (HBA1) to form haemoglobin A, the major haemoglobin in adult humans. The interaction is ... At least 50 disease-causing mutations in this gene have been discovered. HBB protein is produced by the gene HBB which is ...
Hemoglobin variants Hemoglobinopathy Thalassemia What is Thalassemia? Hemoglobin H Disease and its Variants Hemoglobinopathiesm ... It is the most common nondeletional alpha-thalassemia mutation associated with hemoglobin H disease. The quantity of hemoglobin ... Hemoglobin Constant Spring is a variant of hemoglobin in which a mutation in the alpha globin gene produces an alpha globin ... Hemoglobin Constant Spring is renamed after Constant Spring district in Jamaica. ...
Since hemoglobin Barts is elevated in alpha thalassemia, it can be measured, providing a useful screening test for this disease ... Due to this disease being incompatible with life, diagnosis for it is done prenatally. Early detection of Hemoglobin (Hb) ... It is produced in the disease alpha-thalassemia and in the most severe of cases, it is the only form of hemoglobin in ... Anemia is a factor in fetuses with Hemoglobin Bart's disease as there is an "increased cardiac output" and hypovolemia as the ...
Some well-known hemoglobin variants, such as sickle-cell anemia, are responsible for diseases and are considered ... Some normal hemoglobin types are; Hemoglobin A (Hb A), which is 95-98% of hemoglobin found in adults, Hemoglobin A2 (Hb A2), ... Hemoglobin F is the primary hemoglobin produced by the fetus. The hemoglobin transports oxygen efficiently in a low oxygen ... Hb Lepore Hb M Hb F Hb Hope Hb Pisa Hb J Hb Barts Hb N-Baltimore Hemoglobin Chesapeake Hemoglobin Louisville Hemoglobin ...
Padmanaban P, Toora B (2011). "Hemoglobin: Emerging marker in stable coronary artery disease". Chronicles of Young Scientists. ... Coronary artery disease (CAD), also called coronary heart disease (CHD), ischemic heart disease (IHD), myocardial ischemia, or ... Aging-associated diseases, Heart diseases, Ischemic heart diseases, Wikipedia medicine articles ready to translate, Wikipedia ... What is Ischaemic Heart Disease? Clinic Barcelona. www.clinicbarcelona.org/en/assistance/diseases/ischemic-heart-disease/ ...
... is a hereditary disease affecting hemoglobin. As with about half of all hereditary diseases, an inherited ... Beta thalassemias occur due to malfunctions in the hemoglobin subunit beta or HBB. The severity of the disease depends on the ... In that respect, the various thalassemias resemble another genetic disorder affecting hemoglobin, sickle-cell disease. The ... The expected pattern on hemoglobin electrophoresis in people with beta-thalassemia is an increased level of hemoglobin A2 and ...
For example, sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that ... "HBB - Hemoglobin, Beta". Genetics Home Reference. National Library of Medicine. "Anemia, Sickle Cell". Genes and Disease. ... Beta-hemoglobin is created from the genetic information on the HBB, or "hemoglobin, beta" gene found on chromosome 11p15.5. A ... of hemoglobin, which distorts red blood cells into a sickle shape and decreases their elasticity. Hemoglobin is a protein found ...
"Hemoglobin E disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ... she discovered that this was an undescribed form of thalassemia involving a novel abnormal hemoglobin molecule, hemoglobin E ... Hemoglobin E While in Thailand in 1951, Minnich found an unusually high rate of thalassemias, blood disorders characterized by ... Hemoglobin E Minnich, V.; Na-Nakorn, S.; Chong-Chareonsuk, S.; Kochaseni, S. (January 1954). "Mediterranean anemia; a study of ...
In hemoglobin H disease, red blood cells containing hemoglobin H inclusions can be visualized on the blood smear using new ... "Hemoglobin H disease". Orphanet. Retrieved 22 September 2016. Vichinsky EP (1 January 2009). "Alpha thalassemia major--new ... The ability to measure hemoglobin Barts makes it useful in newborn screening tests. If hemoglobin Barts is detected on a ... Several different methods of hemoglobin analysis exist, including hemoglobin electrophoresis, capillary electrophoresis and ...
In persons with sickle cell disease, high levels of fetal hemoglobin as found in a newborn or as found abnormally in persons ... Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition in which increased fetal hemoglobin (hemoglobin F, HbF ... In HPFH the percentage of HbF varies from 0.8-1.0% to about 30% of the total hemoglobin, but levels as high as 100% can be seen ... Approximately 40% of the hemoglobin is in the HbS form while the rest is in normal HbA form. The HbA form interferes with HbS ...
"Transcriptional mechanisms underlying hemoglobin synthesis". Cold Spring Harbor Perspectives in Medicine. 3 (9): a015412. doi: ... The disease in Down syndrome occurs in ~10% of individuals who previously had TMD. During the interval between TMD and the ... The diseases also causes a reduction in the maturation of erythroblasts to circulating red blood cells and, consequently, mild ... Transient myeloproliferative disease develops and may be of concern in fetuses. Features in a review of 39 reported fetal cases ...
MCHC can be elevated ("hyperchromic") in hereditary spherocytosis, sickle cell disease and homozygous hemoglobin C disease, ... The mean corpuscular hemoglobin concentration (MCHC) is a measure of the concentration of hemoglobin in a given volume of ... A low MCHC can be interpreted as identifying decreased production of hemoglobin. MCHC can be normal even when hemoglobin ... It is calculated by dividing the hemoglobin by the hematocrit. Reference ranges for blood tests are 32 to 36 g/dL (320 to 360g/ ...
Chatterjea JB (1971). "Haemoglobin Lepore. An aberrant haemoglobin variant". J Indian Med Assoc. 56 (10): 319-20. PMID 5093793 ... E-thalassaemia disease". Indian J Med Res. 59 (9): 1430-4. PMID 5161569. Swarup-Mitra S, Datta MC, Ghosh SK, Chatterjea JB ( ... E-thalassaemia disease". Indian J Pathol Bacteriol. 16 (4): 41-5. PMID 4791521. India portal Medicine portal Long link - please ... Chatterjea's researches were focused on the hematological aspects of tropical diseases and his studies on the human red blood ...
Perleberg C, Kind A, Schnieke A (January 2018). "Genetically engineered pigs as models for human disease". Disease Models & ... Persons DA, Nienhuis AW (July 2003). "Gene therapy for the hemoglobin disorders". Current Hematology Reports. 2 (4): 348-55. ... disease resistance and survival. Animals have been engineered to grow faster, be healthier and resist diseases. Modifications ... Parkinson's disease, cancer, diabetes, heart disease, and muscular dystrophy. These treatments only affect somatic cells, which ...
Under the development code Aes-103, HMF has been considered for the treatment of sickle cell disease. Today, HPLC with UV- ... HMF bind intracellular sickle hemoglobin (HbS). Preliminary in vivo studies using transgenic sickle mice showed that orally ... "Aes-103 for Sickle Cell Disease". National Center for Advancing Translational Sciences. 2015-03-18. Retrieved 2022-01-20. White ... "5-hydroxymethyl-2-furfural modifies intracellular sickle haemoglobin and inhibits sickling of red blood cells". British Journal ...
This is innocuous because only 2-3% of normal adult hemoglobin is hemoglobin A2. The individual will have normal hematological ... Centers for Disease Control. Retrieved 17 September 2016. Scholia has a topic profile for Delta-beta thalassemia. (Articles ... in which there is a reduced production of hemoglobin subunit delta and hemoglobin subunit beta and raised levels of hemoglobin ... A carrier gets a normal gene to produce hemoglobin A, from one parent and the other parent supplies a gene which makes no ...
"Clinical Practice Guideline for Sickle Cell Disease/Trait". American Society of Aerospace Medicine Specialists. Retrieved 3 May ... Hemoglobin A2 (HbA2) is a normal variant of hemoglobin A that consists of two alpha and two delta chains (α2δ2) and is found at ... Hemoglobin+A2 at the U.S. National Library of Medicine Medical Subject Headings (MeSH) Hemoglobin A2 - The clinical ... Hemoglobin A2 may be increased in beta thalassemia or in people who are heterozygous for the beta thalassemia gene. HbA2 exists ...
Treatment for anemia due to chronic diseases, such as kidney disease, focus on healing the primary condition first. Dietary ... However, the hematocrit and hemoglobin are decreased. In contrast, microcytic anemias are defined as an anemia with a mean ... anemia of chronic disease, aplastic anemia); an increased production of HbS as seen in sickle cell disease (not sickle cell ... The most common type of normocytic anemia is anemia of chronic disease. An anemia is normocytic when the red blood cells (RBCs ...
Ashley-Koch, A; Yang, Q; Olney, R. S. (2000). "Sickle hemoglobin (HbS) allele and sickle cell disease: A HuGE review". American ... "Hemoglobin S- β -Thalassemia Disease - Hematology and Oncology". Retrieved 2015-06-18. "Newborn Screening Program - Sickle Cell ... Ashley-Koch, A; Yang, Q; Olney, R. S. (2000). "Sickle hemoglobin (HbS) allele and sickle cell disease: A HuGE review". American ... The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell ...
... is the first hemoglobin oxygen-affinity modulator. Voxelotor has been shown to have disease-modifying potential by ... "FDA approves drug to treat sickle cell disease in patients aged 4 up to 11 years". U.S. Food and Drug Administration (FDA) ( ... The approval of voxelotor was based on the results of a clinical trial with 274 participants with sickle cell disease. The FDA ... August 2019). "A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease". The New England Journal of Medicine. 381 (6): ...
Ashley-Koch, A; Yang, Q; Olney, R.S (2000). "Sickle hemoglobin (HbS) allele and sickle cell disease". American Journal of ... Tay-Sachs disease, and cystic fibrosis, that theorize the infectious agents. Furthermore, one study in favor of this beneficial ...
Hemoglobin M disease is often not life-threatening and there is no known effective treatment. Hemoglobin M disease is a ... Cyanosis is the most common sign of hemoglobin M disease, which can be observed in all kinds of hemoglobin M diseases. It is ... Dark brown blood is another major sign of hemoglobin M disease. Hemoglobin M diseases caused by different HbM variants may have ... Hemoglobin M disease is a rare form of hemoglobinopathy, characterized by the presence of hemoglobin M (HbM) and elevated ...
Hemoglobin C disease is a blood disorder passed down through families. It leads to a type of anemia, which occurs when red ... Hemoglobin C disease is a blood disorder passed down through families. It leads to a type of anemia, which occurs when red ... The disease most often occurs in African Americans. You are more likely to have hemoglobin C disease if someone in your family ... Hemoglobin C disease is a blood disorder passed down through families. It leads to a type of anemia, which occurs when red ...
... while those with hemoglobin C disease (Hb CC) may have a mild degree of hemolytic anemia, splenomegaly, and borderline anemia. ... is one of the most common structural hemoglobin variants in the human population. Patients with hemoglobin C trait (HbAC) are ... encoded search term (Hemoglobin C Disease) and Hemoglobin C Disease What to Read Next on Medscape ... Hemoglobin C trait (Hb AC) is clinically silent. Hemoglobin C disease (Hb CC) is a mild disorder that generally does not cause ...
Hemoglobin and Its Diseases. Subject Area(s): Human Biology and Disease; Biochemistry. Edited by David Weatherall, Weatherall ... Cell-Free Hemoglobin and its Scavenger Proteins: New Disease Models Leading the Way to Targeted Therapies. Dominik J. Schaer ... More than 1000 hemoglobin disorders are known; hemoglobinopathies (e.g., sickle cell disease) and thalassemias are some of the ... Evolution of Hemoglobin and Its Genes. Ross C. Hardison. Transcriptional Mechanisms Underlying Hemoglobin Synthesis. Koichi R. ...
... tumor cells from dividing is now under study for their potential to reduce the pain and damage caused by sickle cell disease, ... should directly target the hemoglobin problem in sickle cell disease. Pace has shown panobinostat increases fetal hemoglobin ... Targeting the hemoglobin problem in sickle cell disease using a new drug. *Download PDF Copy ... Hemoglobin is the oxygen-carrying component of red blood cells, and with sickle cell disease its inefficient at this ...
Hemoglobin SC Disease: occurs when an abnormal hemoglobin S gene is inherited from one parent and a hemoglobin C gene is ... An example of hemoglobin disease is sickle cell anemia.. There are over 600 hemoglobin diseases that have been medically ... All babies born in Mississippi are tested for hemoglobin disease and trait. Babies with hemoglobin disease are referred to ... Most Frequently Confirmed Hemoglobin Diseases in Mississippi. *Sickle Cell Anemia: occurs when an abnormal hemoglobin S gene is ...
Blood hemoglobin Blood hemoglobin. Serum free hemoglobin is a blood test that measures the level of free hemoglobin in the ... Hemoglobin electrophoresis Hemoglobin electrophoresis. Hemoglobin is a protein that carries oxygen in the blood. Hemoglobin ... The disease most often occurs in African Americans. You are more likely to have hemoglobin C disease if someone in your family ... Hemoglobin C disease is a blood disorder passed down through families. It leads to a type of anemia , which occurs when red ...
Haemoglobin H disease is described in successive generations of 2 Filipino families. The condition was asymptomatic. The ... inheritance pattern of haemoglobin H disease in these families appeared to be like that described for Thais. ...
Patients (n=310) 3 to 20 years of age with sickle cell disease confirmed by hemoglobin electrophoresis or high performance ... Pulmonary hypertension associated with sickle cell disease: clinical and laboratory endpoints and disease outcomes. Am J ... Pulse oximetry and factors associated with hemoglobin oxygen desaturation in children with sickle cell disease. Blood. 1993; 81 ... Homi J, Levee L, Higgs D, Thomas P, Serjeant G. Pulse oximetry in a cohort study of sickle cell disease. Clin Lab Haematol. ...
The Pathology of Sickle Cell Haemoglobin C Disease and Sickle Cell Anaemia ... The Pathology of Sickle Cell Haemoglobin C Disease and Sickle Cell Anaemia ...
No Racial Differences in the Association of Glycated Hemoglobin With Kidney Disease and Cardiovascular Outcomes. Diabetes Care ... No Racial Differences in the Association of Glycated Hemoglobin With Kidney Disease and Cardiovascular Outcomes. Diabetes Care ... No racial differences in the association of glycated hemoglobin with kidney disease and cardiovascular outcomes ... No racial differences in the association of glycated hemoglobin with kidney disease and cardiovascular outcomes ...
We did a secondary analysis of patients with chronic kidney disease enrolled in the Correction of Hemoglobin in the Outcomes in ... Trials of anemia correction in chronic kidney disease have found either no benefit or detrimental outcomes of higher targets. ... significantly more patients in the high-hemoglobin compared to the low-hemoglobin arm were unable to achieve target hemoglobin ... We did a secondary analysis of patients with chronic kidney disease enrolled in the Correction of Hemoglobin in the Outcomes in ...
... we did not find any patients with Hemoglobin C disease (Hb CC), but all 39 patients with variants of HbC had the hemoglobin C ... We analyzed the hemoglobin variants and hemoglobinopathies phenotypes found in hemoglobin electrophoresis and the hemoglobin ... Disease. Hemoglobin Variants. Findings in electrophoresis. Clinic. Sickle cell anemia. Hb SS. HbS 80-100%, HbA2 ,3.5%, ... for sickle cell disease1212 Amman J. Report on the Regional meeting on Haemoglobinopathies and Genetic Diseases in the Eastern ...
Hemoglobin SC Disease. Summarell and Sheehan (2016) stated that hydroxyurea is an excellent therapeutic agent for the ... Markham MJ, Lottenberg R, Zumberg M. Role of phlebotomy in the management of hemoglobin SC disease: Case report and review of ... Original research: Use of hydroxyurea and phlebotomy in pediatric patients with hemoglobin SC disease. Exp Biol Med (Maywood). ... A total of 7 sickle cell disease patients (4 sickle cell anemia, 3 sickle Hb C disease), aged 4 to 24 years, were submitted to ...
Article Rare unstable and low oxygen affinity haemoglobin variant, Hb Hazebrouck, detected on Sysmex XN-9000 was published on ... Diagnosis and management of rare congenital nonimmune hemolytic disease. Hematology Am Soc Hematol Educ Program 2015;2015:392-9 ... Rare unstable and low oxygen affinity haemoglobin variant, Hb Hazebrouck, detected on Sysmex XN-9000. * Anne-Sophie Adam , Sara ... 5. Mongelli, F, Barberio, G, Ivaldi, G. A rare and unstable hemoglobin variant, Hb M Dothan β 25/26 (-GTG), detected by the ...
Evolution of hemoglobin loci and their regulatory elements. Blood Cells, Molecules, and Diseases. 70: 2-12. ... Hemoglobin has always been hemoglobin-theres no evidence it evolved. Did hemoglobin evolve? Evolutionists should be able to ... Hemoglobin has always been hemoglobin no matter where it is found. For example, many deep-ocean trenches have hydrothermal ... The red color is from several complex hemoglobins that have 144 globin chains. "The high molecular mass hemoglobin of the worm ...
Hemoglobin E Disease - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... more have a hemolytic disease more severe than hemoglobin S-beta-thalassemia Hemoglobin S-Beta-Thalassemia Disease Hemoglobin S ... Homozygous hemoglobin E (Hb E) disease is a hemoglobinopathy Overview of Hemoglobinopathies Hemoglobinopathies are genetic ... Hemoglobin (Hb) E is the 3rd most prevalent hemoglobin worldwide (after Hb A and Hb S). It occurs primarily in Southeast Asian ...
... heart diseases; cancer and blood cancers. The studies compared higher or lower blood count thresholds for blood transfusion. ( ... The blood count measures the amount of haemoglobin in the blood. Haemoglobin is a protein that gives blood its red colour and ... The optimal haemoglobin threshold for use of red blood cell (RBC) transfusions in anaemic patients remains an active field of ... The haemoglobin concentration used to define the restrictive transfusion group in most trials (36) was between 7.0 g/dL and 8.0 ...
COVID-19 & Haemoglobin Disorders: Compilation of Information for Sickle Cell Disease (2020). 27 Μαΐου, 2020 ... COVID-19 & Haemoglobin Disorders: A Classification of Risk Groups & Other Considerations (2020) Less than a minute ... Home/Publications/TIF Publications/COVID-19 & Haemoglobin Disorders: A Classification of Risk Groups & Other Considerations ( ... Prevention of Inherited Diseases - The Example of β-Thalassaemia (2020). 3 Ιουνίου, 2020 ...
Sickle cell disease causes red blood cells to be sickle-shaped. Read on to learn about risk factors, symptoms, and more. ... Hemoglobin SS disease. Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when you inherit copies ... Hemoglobin SC disease. Hemoglobin SC disease is the second most common type of sickle cell disease. It occurs when you inherit ... Hemoglobin SD, hemoglobin SE, and hemoglobin SO These types of sickle cell disease are more rare and usually dont have severe ...
... and are at an increased risk of offspring with hemoglobin Bart or hemoglobin H disease. Hemoglobin H disease, which is caused ... In the homozygous form of sickle cell disease, nearly all the hemoglobin is hemoglobin S with small amounts of hemoglobin A2 ... The most common of these are hemoglobin SC disease and hemoglobin S/β-thalassemia. In hemoglobin C, the same nucleotide ... hemoglobin A, and hemoglobin A2. Hemoglobin F is the primary hemoglobin of the fetus from 12 weeks to 24 weeks of gestation. In ...
Sickle cell disease is an inherited blood disorder where cells cluster together, making it difficult for them to move through ... Sickle cell with hemoglobin C disease (HbSC). *The child has one HbS gene and one defective hemoglobin C gene (HbC). ... We treat sickle cell anemia (HbSS), sickle cell with hemoglobin C disease (HbSC), hemoglobin S-beta-thalassemia (HbSβ0 and Hbβ+ ... Sickle Cell Disease , Symptoms & Causes. What are the symptoms of sickle cell disease?. The severity of the symptoms of sickle ...
Hemoglobin disorders. SS disease (sickle cell anemia). S, beta-thalassemia. Various other hemoglobinopathies ... Inherited metabolic diseases, often referred to as inborn errors of metabolism, comprise a large class of genetic diseases ... As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase ... disease management, and assessing a persons risk for carrying a specific disease trait (i.e., carrier status assessment), such ...
Recombinant Mouse Hemoglobin subunit beta-2 (Hbb-b2) from Cusabio. Cat Number: CSB-YP360812MO. USA, UK & Europe Distribution. ... Pancreatic CancerPancreatic cancer is a disease in which malignant cells grow in the tissues of the … ... Recombinant Mouse Hemoglobin subunit beta-2 (Hbb-b2) , CSB-YP360812MO Cusabio Mouse Recombinants Recombinant Mouse Hemoglobin ... Recombinant Mouse Hemoglobin subunit beta-2 (Hbb-b2) , CSB-YP360812MO , Cusabio. Alternative Name(s): Beta-2-globinHemoglobin ...
View article titled, Serum Ferritin Levels in Hemoglobin H Disease Open the PDF for Serum Ferritin Levels in Hemoglobin H ... Open the PDF for HbH Disease in Sardinia: Molecular, Hematological and Clinical Aspects in another window ... Open the PDF for Chronic Liver Disease in Transfusion-Dependent Thalassemia: Liver Iron Quantitation and Distribution in ... Chronic Liver Disease in Transfusion-Dependent Thalassemia: Liver Iron Quantitation and Distribution ...
Adult Kidney Disease: Patients on Erythropoiesis-Stimulating Agent-Hemoglobin Level , 12.0 g/dL INACTIVE REVIEW: This measure ... Comprehensive Diabetes Care: Hemoglobin A1c (HgbA1c) Percentage of patients 18-75 years of age with diabetes who had hemoglobin ... chronic kidney disease [stages 4 or 5], End Stage Renal Disease [ESRD] or congestive heart failure) being treated by another ... Chronic Obstructive Pulmonary Disease (COPD), Coronary Artery Disease (CAD), Heart Failure (HF), Hypertension (HTN), or ...
... infectious diseases, epidemiology, basic and molecular biology, virology and international medicine. ... Tropical Diseases Research Series: 1. The Role of the Spleen in the Immunology of Parasitic Diseases (300 pages, illustrated); ... Published on behalf of the UNDP/World Bank/WHO Special Programme for Research and Training in Tropical Diseases by Schwabe & Co ... 2. The Membrane Pathobiology of Tropical Diseases (226 pages, illustrated); 3. The in Vitro Cultivation of the Pathogens of ...
Faecal haemoglobin and faecal calprotectin as indicators of bowel disease in patients presenting to primary care with bowel ... Low faecal haemoglobin concentration potentially rules out significant colorectal disease. Colorectal Dis 2013;15:e151-9. doi: ... Should fecal hemoglobin be a component of the routine laboratory repertoire. *Should we be measuring more or different ... myADLM.org // Science & Research // Scientific Shorts // Should fecal hemoglobin be a component of the routine laboratory ...
Hemoglobin level , 12 g/dL * Four or more nodal sites of disease ... T2a: all-disease in a , 15-cm diameter. T2b: all-disease in a , ... X for bulky disease replaced with documenting of largest tumor diameter. Definition of "bulky" disease varies, depending on ... such as in patients with progressive disease not responding to rituximab or patients developing extracutaneous disease. [22] ... For aa-IPI=0 with bulky disease or aa-IPI=1, treatment recommendations are as follows:. * R-CHOP every 21 d for six cycles with ...
Joint role of non-HDL cholesterol and glycated haemoglobin in predicting future coronary heart disease events among women with ... Joint role of non-HDL cholesterol and glycated haemoglobin in predicting future coronary heart disease events among women with ... Joint role of non-HDL cholesterol and glycated haemoglobin in predicting future coronary heart disease events among women with ... T1 - Joint role of non-HDL cholesterol and glycated haemoglobin in predicting future coronary heart disease events among women ...
  • Biochemical testing, hemoglobin electrophoresis, ultraviolet-visible wavelength light spectroscopy, and DNA-based globin gene analysis can be used for diagnosis. (wikipedia.org)
  • Hemoglobin electrophoresis measures the levels of the different types of this protein in t. (stlukes-stl.com)
  • This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. (scielo.br)
  • Diagnosis of hemoglobin E disease is by hemoglobin electrophoresis. (msdmanuals.com)
  • A blood test called a hemoglobin electrophoresis can also determine which type you might carry. (healthline.com)
  • Hemoglobin electrophoresis is used to diagnose hemoglobin C disease and other hemoglobinopathies. (mhmedical.com)
  • Most affected patients are detected during newborn screening programs for hemoglobinopathies, which include assessments of the size and volume of red blood cells (reduced in hemoglobin E disease), and hemoglobin electrophoresis. (mhmedical.com)
  • Complete blood count and haemoglobin electrophoresis, G6PD activity and serum ferritin were determined. (who.int)
  • Howard J. Sickle cell disease and other hemoglobinopathies. (medlineplus.gov)
  • Hemoglobin and hemoglobinopathies. (medlineplus.gov)
  • Although the clinical complications of hemoglobin C disease are not severe, inheritance with other hemoglobinopathies such as hemoglobin S may have significant consequences. (medscape.com)
  • hemoglobinopathies (e.g., sickle cell disease) and thalassemias are some of the most common human genetic diseases worldwide. (cshlpress.com)
  • Sickle cell disease and associated hemoglobinopathies. (stlukes-stl.com)
  • Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. (scielo.br)
  • Both qualitative and quantitative alterations are known as "hemoglobinopathies", which are the most common recessive diseases found worldwide and represent a major public health problem. (scielo.br)
  • Within hemoglobinopathies, sickle cell disease is the most common and is mainly widespread in sub-Saharan Africa, the Middle East, India and among people of African descent living in Europe and North, Central and South America 4 4 Cataldo F. Immigration and changes in the epidemiology of hemoglobin disorders in Italy: an emerging public health burden. (scielo.br)
  • thalassemia major or thalassemia trait and hemoglobin E (HbE) are the second most common, 1 1 Wahed A, Quesada A, Dasgupta A. Hemoglobinopathies and Thalassemias. (scielo.br)
  • other less widespread hemoglobinopathies are hemoglobin C (HbC), which is particularly common in West Africa and hemoglobin D (HbD), more prevalent in Southeast Asia, the Middle East and India. (scielo.br)
  • Overview of Hemoglobinopathies Hemoglobinopathies are genetic disorders affecting the structure or production of the hemoglobin molecule. (msdmanuals.com)
  • The prevalence and molecular basis of hemoglobinopathies in Cambodia.Hemoglobin. (who.int)
  • Because of the potential for complications from the disease, patients with hemoglobinopathies should have periodic check-ups, includinga retinal examination, assessment of symptoms of anemia (such as breathlessness on exertion, fatigue), and blood testing. (mhmedical.com)
  • Causes of the second category include blood loss (hemorrhage), hemolysis of various etiologies (both intrinsic and extrinsic), and hemoglobin disorders (hemoglobinopathies and thalassemias). (medscape.com)
  • occurs when an abnormal hemoglobin S gene is inherited from both parents. (ms.gov)
  • occurs when an abnormal hemoglobin S gene is inherited from one parent and a hemoglobin C gene is inherited from the other parent. (ms.gov)
  • occurs when an abnormal hemoglobin S gene and a beta thalassemia gene are inherited. (ms.gov)
  • Disorders can be divided into two main groups: qualitative alterations, in which there are variants in the globin genes that can cause changes in the structure of the globin and lead to the production of abnormal hemoglobin (HbS, HbC and HbE, among others) and quantitative alterations, which result from a quantitative deficiency in one or more of the hemoglobin globin chains (thalassemias). (scielo.br)
  • A new abnormal hemoglobin with instability and low oxygen affinity. (degruyter.com)
  • The child has one HbS gene and another abnormal hemoglobin gene. (childrenshospital.org)
  • Background Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. (uct.ac.za)
  • Hemoglobinopathy is the study of abnormal hemoglobin. (medicalnewstoday.com)
  • The drugs are called HDAC inhibitors, and the investigators have early evidence one called panobinostat can reactivate after birth the gene that produces fetal hemoglobin, which cannot sickle, says Abdullah Kutlar, MD, director of the Center for Blood Disorders at the Medical College of Georgia and Augusta University Health. (news-medical.net)
  • Histone deacetylases, or HDACs, are enzymes that are among the many ways gene expression gets turned down, a natural process for some genes, like the gamma-globin gene that makes fetal hemoglobin, as we move from childhood to adulthood. (news-medical.net)
  • Fetal hemoglobin enables a developing baby to capture oxygen from mother's blood while the beta-globin gene produces adult hemoglobin that carries oxygen. (news-medical.net)
  • Within the first few months after birth, most babies have little to no fetal hemoglobin. (news-medical.net)
  • That is important for sickle cell because we know in adults that the fetal hemoglobin gene is shut down and we know fetal hemoglobin works very well as a disease modifier. (news-medical.net)
  • Two HDACs are involved in silencing the fetal hemoglobin gene and panobinostat is a pan-HDAC inhibitor, which means it silences more than one HDAC. (news-medical.net)
  • Hydroxyurea, the first sickle cell drug approved by the U.S. Food and Drug Administration back in 1998, also increases fetal hemoglobin, although precisely how remains unclear, and it's also used for some cancers. (news-medical.net)
  • Kutlar notes that if panobinostat continues to show promise, his next steps will include pairing the two fetal hemoglobin promoters to see if there is beneficial synergy. (news-medical.net)
  • The investigators will be monitoring study participants' levels of the non-sickling fetal hemoglobin as well as levels of F-cells, a subpopulation of red blood cells that contain fetal hemoglobin. (news-medical.net)
  • Pace has shown panobinostat increases fetal hemoglobin expression both in red blood cells in culture and in mouse models of sickle cell disease by enabling reactivation of the fetal hemoglobin gene. (news-medical.net)
  • What role does BPG play in transfer of oxygen from the maternal hemoglobin (HbA) to the fetal hemoglobin (HbF)? (flashcardmachine.com)
  • The gamma chain of fetal hemoglobin binds BPG with a lower affinity relative to the adult hemoglobin. (flashcardmachine.com)
  • Fetal hemoglobin (HbF) reduces disease severity, but the levels vary from one individual to another. (uct.ac.za)
  • For example, in a recent study of 62 children and adolescents with hemoglobin SS or Sβ° thalassemia, 11 reticulocyte count had a significant association with jet velocity but hemoglobin, lactate dehydrogenase and bilirubin concentrations did not. (haematologica.org)
  • Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. (degruyter.com)
  • Hemoglobin S-Beta-Thalassemia Disease Hemoglobin S-beta-thalassemia disease is a hemoglobinopathy that causes symptoms similar to those of sickle cell disease, but less severe. (msdmanuals.com)
  • Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. (healthline.com)
  • If inherited with the Hb S gene, you will have hemoglobin S beta thalassemia. (healthline.com)
  • Sickle beta-zero thalassemia is the fourth type of sickle cell disease. (healthline.com)
  • These abnormalities may indicate sickle cell disease, thalassemia , or other disorders. (medicalnewstoday.com)
  • this leads to the clinical disease known as alpha thalassemia. (medscape.com)
  • 1, 2] Similarly, impaired production of beta globin gene products manifests with a more severe disease known as beta thalassemia. (medscape.com)
  • The resulting disorder is referred to as hydrops fetalis, alpha thalassemia major, or hemoglobin Bart's. (medscape.com)
  • The disease is caused by a problem with a gene called beta globin. (medlineplus.gov)
  • This book includes discussions of management and treatment strategies for hemoglobin disorders, such as transfusions, iron-chelating agents, gene therapy, and stem cell transplantation. (cshlpress.com)
  • There are over 300 alleles (one of two or more forms of a gene that produce variations in a given trait) for the hemoglobin gene, part of the globin gene superfamily. (icr.org)
  • You need two copies of the gene to have the disease. (healthline.com)
  • It occurs when you inherit copies of the hemoglobin S gene from both parents. (healthline.com)
  • People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. (healthline.com)
  • People with sickle cell trait have one copy of the HbS gene and one copy of the normal hemoglobin A gene ( HbA ). (childrenshospital.org)
  • The type of sickle cell disease depends on the specific gene variant that your child has inherited. (childrenshospital.org)
  • The child has one HbS gene and one defective hemoglobin C gene (HbC). (childrenshospital.org)
  • Most hemoglobin C patients have normal longevity unless they carry one gene for hemoglobin C and another for hemoglobin S (sickle cell disease). (mhmedical.com)
  • SCD is the most prevalent genetic disease in the African Region.1 There are different subtypes of SCD in which the abnormal S gene (S) coexists with other abnormal haemoglobin genes. (who.int)
  • At present, about 5% of the world's population are carriers of a potentially pathological haemoglobin gene (i.e. healthy people who have inherited only one mutant gene from one parent). (who.int)
  • Although a single abnormal gene may protect against malaria, inheritance of two abnormal genes leads to the haemoglobin disease state and confers no such protection. (who.int)
  • Pharmaceutical induction of haemoglobin F synthesis and gene therapy hold great promise for treating haemoglobin disorders, although more research is needed, particularly on gene therapy. (who.int)
  • 1 , 4 , 5 The prevalence and natural history of elevated jet velocity in children with sickle cell disease at steady state are largely unknown. (haematologica.org)
  • The Global Health Initiative at Dana-Farber/Boston Children 's Cancer and Blood Disorders Center is working to improve survival for children with sickle cell disease around the world, including programs to establish newborn screening for sickle cell disease and developing research partnerships in Liberia and Haiti. (childrenshospital.org)
  • All children with sickle cell disease have inherited sickle cell trait (HbAS) from at least one parent. (childrenshospital.org)
  • Decreased Hepcidin Levels Are Associated with Low Steady-state Hemoglobin in Children With Sickle Cell Disease in Tanzania. (ox.ac.uk)
  • The pathophysiological consequences of hemoglobin disorders (e.g., ineffective erythropoiesis and aberrant iron homeostasis), their clinical manifestations, and epidemiological trends are also described. (cshlpress.com)
  • H emoglobin diseases are a group of blood disorders passed down through families in which there is an abnormal production or structure of the hemoglobin protein. (ms.gov)
  • Most disorders affecting hemoglobin are hereditary and it is estimated that approximately 7% of the world's population is constituted by carriers of different inherited hemoglobin disorders, making them the most common recessive hereditary diseases. (scielo.br)
  • 4 4 Cataldo F. Immigration and changes in the epidemiology of hemoglobin disorders in Italy: an emerging public health burden. (scielo.br)
  • Inherited haemoglobin disorders: an increasing global health problem. (who.int)
  • Oxidative stress has been implicated in a wide range of diseases including atherosclerosis, hypertension, diabetes, ischemia reperfusion injury and a range of neurodegenerative disorders (Flora, 2007). (scialert.net)
  • Respiratory diseases are common health disorders in veal calves, which have a severe impact on both animal welfare and the income of producers, because they are the most important causes of morbidity and mortality ( 13 , 14 ). (frontiersin.org)
  • Various disorders and diseases primarily affect the blood and may be studied and treated by a hematologist. (medicalnewstoday.com)
  • Increasing global migration, however, has introduced haemoglobin disorders into many areas where they were not originally endemic (see Figure). (who.int)
  • In the United States of America, 10% of the population is at risk of sickle-cell anaemia, and in north-western Europe between 2% and 9% belong to the ethnic minorities at risk of haemoglobin disorders. (who.int)
  • Because of the complications associated with chronic haemoglobin disorders and the consequent years of disability, haemoglobinopathies are becoming a growing health-care problem in all affected regions but in particular the developing world. (who.int)
  • Hemoglobin M diseases caused by different HbM variants may have slight variations in their signs and symptoms, some include signs such as hemolytic anemia, decreased HbA1c, and abnormal co-oximetry. (wikipedia.org)
  • Contributors examine the structure, expression, and evolution of the globin genes, the assembly of globin subunits into functional forms of hemoglobin, and the numerous variants that result from genetic alterations. (cshlpress.com)
  • To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. (scielo.br)
  • Automated detection of unstable hemoglobin variants by Sysmex XE-Series analyzers. (degruyter.com)
  • HbM is an altered form of hemoglobin (Hb) due to point mutation occurring in globin-encoding genes, mostly involving tyrosine substitution for proximal (F8) or distal (E7) histidine residues. (wikipedia.org)
  • yet this form of hemoglobin is unstable and tends to precipitate within the cell, forming insoluble inclusions (Heinz bodies) that damage the red cell membrane. (medscape.com)
  • Representation of a human hemoglobin protein molecule. (icr.org)
  • They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed. (medscape.com)
  • The abundance, stability, and oxygen-carrying properties of hemoglobin can be altered by genetic mutations. (cshlpress.com)
  • It is an indispensable reference for biochemists, geneticists, cell and developmental biologists, physiologists, and all who are interested in reducing the medical burden of these common genetic diseases. (cshlpress.com)
  • Unstable hemoglobins: influence of environment on phenotypic expression of a genetic disorder. (degruyter.com)
  • Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs). (healthline.com)
  • As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. (cdc.gov)
  • The severity of the symptoms of sickle cell disease can vary greatly depending on the specific genetic type and even within those of the same type. (childrenshospital.org)
  • It is caused by a genetic abnormality in the hemoglobin molecule inherited in autosomal recessive fashion. (mhmedical.com)
  • hē′mŏ-glō″bĭn) A mild form of hemolytic anemia caused by a genetic variant of the hemoglobin molecule. (mhmedical.com)
  • It is an autosomal recessively inherited genetic disease affecting the structure of the beta globin molecule. (mhmedical.com)
  • It is the most prevalent genetic disease in the WHO African Region. (who.int)
  • Sickle-cell disease (SCD) is a genetic condition in which the red blood cells contain haemoglobin S (HbS), an abnormal form of the oxygen-carrying protein. (who.int)
  • There are several different types of sickle cell disease that differ in symptoms and severity. (childrenshospital.org)
  • Children may experience a broad range of sickle cell symptoms and disease severity. (childrenshospital.org)
  • This study aimed to investigate whether serum indicators related to iron stores in the body are associated with clinical and endoscopic disease severity. (nature.com)
  • Therefore, we hypothesized that the indicators related to serum iron parameters may be candidates for evaluating disease severity. (nature.com)
  • Thus, the aims of the current study are (1) to compare the differences in serum indicators related to iron stores in the body between CD patients and controls and (2) to investigate whether these indicators are associated with disease severity. (nature.com)
  • Therefore, the main aim of this study was to assess the predictive yield of urinary isomorphic red blood cells for disease severity and renal outcomes in patients with ANCA-MPO associated vasculitis. (springer.com)
  • Objective: To determine the frequency and severity of acute splenic complications in children and adolescents with sickle cell (SC) hemoglobin C disease. (elsevierpure.com)
  • Methods: The medical records of 271 patients with SC disease seen at our center were reviewed to evaluate the incidence and severity of acute complications involving the spleen. (elsevierpure.com)
  • BACKGROUND: The contribution of hepcidin as a regulator of iron metabolism & erythropoiesis on the severity of anemia in sickle cell disease (SCD) remains poorly characterized, especially in Sub-Saharan African populations. (ox.ac.uk)
  • In a study on vertebrate globins, Jay Storz and his colleagues wrote, "The retention of the proto- Hb and Mb genes in the ancestor of jawed vertebrates permitted a physiological division of labor between the oxygen-carrier function of Hb [hemoglobin] and the oxygen-storage function of Mb [myoglobin]. (icr.org)
  • Some haemoglobinopathy genes ( alpha-thal, beta-thal and HbS ) cause alpha-thalassaemia, beta-thalassaemia and sickle-cell anaemia, respectively, but others ( HbE and HbC ) cause severe clinical manifestations of the disease only when combined with one of the former genes. (who.int)
  • Alpha-chain genes in duplication on chromosome 16 pairing with non-alpha chains to produce various normal hemoglobins. (medscape.com)
  • What are the types of sickle cell disease? (healthline.com)
  • These types of sickle cell disease are more rare and usually don't have severe symptoms. (healthline.com)
  • Thalassemias Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. (msdmanuals.com)
  • Persons with hemoglobin C trait (Hb AC) are phenotypically normal, with no clinically evident symptoms, while those with hemoglobin C disease (Hb CC) may have a mild degree of hemolytic anemia and sequelae of hemolysis including jaundice, gallstones, or splenomegaly. (medscape.com)
  • Hemoglobin C trait (Hb AC) is clinically silent. (medscape.com)
  • All babies born in Mississippi are tested for hemoglobin disease and trait. (ms.gov)
  • Sickle cell trait is not a disease. (ms.gov)
  • Most people with sickle cell trait do not have any health effects because they have some normal A hemoglobin. (ms.gov)
  • Children are only at risk for sickle cell disease if both parents carry sickle cell trait. (healthline.com)
  • Sickle cell trait is not a form of sickle cell disease, although in rare circumstances, sickle cell trait can become symptomatic. (childrenshospital.org)
  • Sickle-cell disease prevalence depends on sickle-cell trait. (who.int)
  • hē′mŏ-glō′bĭn) A mild, chronic hemolytic anemia, similar to sickle cell disease, that results from an abnormality in the amino acid structure of the hemoglobin molecule. (mhmedical.com)
  • Hemoglobin and hematocrit are unrelated to exposure. (cdc.gov)
  • Trials of anemia correction in chronic kidney disease have found either no benefit or detrimental outcomes of higher targets. (nih.gov)
  • We did a secondary analysis of patients with chronic kidney disease enrolled in the Correction of Hemoglobin in the Outcomes in Renal Insufficiency trial to measure the potential for competing benefit and harm from achieved hemoglobin and epoetin dose trials. (nih.gov)
  • found that serum hepcidin was positively correlated with IL-6 and negatively correlated with hemoglobin in anemia of chronic disease (ACD) 11 .This suggested that iron stored in these inflammatory cells is an important source of hematopoiesis in CD patients with ACD. (nature.com)
  • Low levels of red blood cells in people with a long-term illness ( anemia of chronic disease). (webmd.com)
  • Taking iron by mouth or by IV along with other medications such as epoetin alfa can help build red blood cells and prevent or treat anemia in people with certain chronic diseases. (webmd.com)
  • However, because these individuals have a risk of cardiovascular disease and chronic kidney disease similar to that of the diabetes-free population , replacement of OGTT with HbA1c-based diagnosis appears justified. (bvsalud.org)
  • Intermittent vaso-occlusive crises may be superimposed, or chronic low-level pain may be the only expression of the disease. (medscape.com)
  • What Is Hypertension-Induced Chronic Kidney Disease? (medicinenet.com)
  • Hypertension -induced chronic kidney disease (CKD) is a long-standing kidney condition that develops over time due to persistent or uncontrolled high blood pressure ( hypertension ). (medicinenet.com)
  • What are the signs and symptoms of hypertension-induced chronic kidney disease? (medicinenet.com)
  • Early chronic kidney disease (CKD) also may not have symptoms. (medicinenet.com)
  • How do doctors diagnose hypertension-induced chronic kidney disease? (medicinenet.com)
  • Anyone who has high blood pressure is more likely to develop chronic kidney disease (CKD) in the absence of treatment. (medicinenet.com)
  • There is no cure for hypertension-induced chronic kidney disease (CKD). (medicinenet.com)
  • While the full physiological significance of the developmental diversity of hemoglobins is not yet understood, it is clear that the multiplicity of hemoglobins produced in a developmentally controlled manner is a strongly conserved feature across vertebrates, including the jawless vertebrates (agnathans), which are the most distantly related extant vertebrate relatives to humans. (icr.org)
  • Serum free hemoglobin is a blood test that measures the level of free hemoglobin in the liquid part of the blood (the serum). (stlukes-stl.com)
  • Underweight, decreased serum iron and TIBC were independent risk factors for moderate clinical disease. (nature.com)
  • In an elderly population with cognitive impairment, we investigated the association between serum uric acid (sUA) and serum homocysteine (sHcy), known risk factors for cerebrovascular disease. (mdpi.com)
  • Who would consider seriously a phylogeny of vertebrates drawn from a comparison of myoglobin [a single polypeptide chain molecule found in the muscles of vertebrates] of some species and hemoglobin from others? (icr.org)
  • The species for which myoglobin is used will cluster together far away from the related species for which hemoglobin is selected. (icr.org)
  • How many sub-units does myoglobin and hemoglobin have, respectively? (flashcardmachine.com)
  • Heme proteins like hemoglobin (Hb) and myoglobin (Mb) contain redox-active transition metal iron that makes them susceptible to causing oxidative damage. (scialert.net)
  • Contact your health care provider if you have symptoms of hemoglobin C disease. (medlineplus.gov)
  • Hemoglobin C disease (Hb CC) is a mild disorder that generally does not cause any symptoms and is associated with a normal life expectancy. (medscape.com)
  • A variety of symptoms and complications of sickle cell disease occur. (childrenshospital.org)
  • What are the symptoms of sickle cell disease? (childrenshospital.org)
  • Symptoms and complications of sickle disease may include the following. (childrenshospital.org)
  • In this clinical setting, symptoms are very poor indicators of the presence of significant colorectal disease,7 even rectal bleeding.8 Amongst other reasons, encouragement from governments in the United Kingdom (UK) to the general public to seek care if they experience lower GI symptoms has led to large and ongoing rises in the number of referrals to secondary care for colorectal visualization, usually colonoscopy. (aacc.org)
  • It is firmly believed that it is timely that FIT should become integral to the assessment of all patients presenting to primary care with new GI symptoms to objectively, efficiently, and effectively determine the risk of underlying significant colorectal disease (CRC, advanced adenoma, and inflammatory bowel disease ([IBD]) and to encourage direction of colorectal visualization to those patients who would benefit most. (aacc.org)
  • Hemoglobin M disease is a rare form of hemoglobinopathy, characterized by the presence of hemoglobin M (HbM) and elevated methemoglobin (metHb) level in blood. (wikipedia.org)
  • hē″mō-glō-bĭn-ē′mē-ă) [Gr. haima , blood, + L. globus , globe, + Gr. haima , blood] The presence of hemoglobin in the blood plasma. (mhmedical.com)
  • Two minor forms of hemoglobin constitute a small percentage of normal blood: hemoglobin F (fetal), composed of 2 alpha chains and 2 gamma chains, and hemoglobin A2, composed of 2 alpha chains and 2 delta chains. (medscape.com)
  • Structural study of hemoglobin Hazebrouck, beta 38(C4)Thr→Pro. (degruyter.com)
  • Because results are reported in nanomol adduct per gram of hemoglobin used in the measurement, the amount of hemoglobin used for this analysis needs to be determined. (cdc.gov)
  • The absorbance of the solution at 540 nm reflects the amount of hemoglobin present. (medscape.com)
  • Hemoglobin C disease is a blood disorder passed down through families. (medlineplus.gov)
  • Sickle cell disease is an inherited blood disorder. (childrenshospital.org)
  • The most common form of SCD found in North America is homozygous HbS disease (HbSS), an autosomal recessive disorder first described by Herrick in 1910. (medscape.com)
  • Beta- thalassaemia is the most common haemoglobin disorder in the Mediterranean basin, the Middle East and Asia. (who.int)
  • Individuals with this disorder cannot produce any functional alpha globin and thus are unable to make any functional hemoglobin A, F, or A2. (medscape.com)
  • The hemoglobin molecule is designed with much variation to supply the oxygen needs of a wide variety of organisms. (icr.org)
  • The oxygen carrying capability of the red blood cells (RBCs) relies on hemoglobin, a tetramer protein that comprises 4 globin chains bound to the heme molecule. (medscape.com)
  • Rare unstable and low oxygen affinity haemoglobin variant, Hb Hazebrouck, detected on Sysmex XN-9000" Clinical Chemistry and Laboratory Medicine (CCLM) , vol. 60, no. 5, 2022, pp. e116-e118. (degruyter.com)
  • Hemoglobin C (Hb C) is a structural variant of normal hemoglobin A (Hb A) caused by an amino acid substitution of lysine for glutamic acid at position six of the beta hemoglobin chain. (medscape.com)
  • The pathophysiology of hemoglobin M disease involves heme iron autoxidation promoted by heme pocket structural alteration. (wikipedia.org)
  • Background Elevation of echocardiography-determined tricuspid regurgitant jet velocity predicts high systolic pulmonary artery pressure and early mortality in adults with sickle cell disease. (haematologica.org)
  • Unlike adults who have alpha and beta chains in the hemoglobin, a foetus expresses a zeta chain instead of alpha and epsilon, then later gamma instead of the HbA beta chain. (flashcardmachine.com)
  • The dominant hemoglobin in adults (hemoglobin A) is composed of 2 alpha and 2 beta chains. (medscape.com)
  • Hemoglobin C is an abnormal type of hemoglobin, the protein in red blood cells that carries oxygen. (medlineplus.gov)
  • Hemoglobin is a protein that carries oxygen in the blood. (stlukes-stl.com)
  • Haemoglobin is a protein that gives blood its red colour and carries oxygen around the body. (cochrane.org)
  • A National Institutes of Health-funded study comparing low dose iron supplementation to no supplementation in blood donors found that supplementation significantly reduced the time to recovery of post-donation lost iron and hemoglobin-an iron-rich protein that carries oxygen in red blood cells throughout the body. (nih.gov)
  • No Racial Differences in the Association of Glycated Hemoglobin With Kidney Disease and Cardiovascular Outcomes. (diabetesjournals.org)
  • Patients were followed up for a median of 25 months and progression to end-stage kidney disease and death were regarded as main outcome events. (springer.com)
  • Additionally, univariate and multivariate Cox regression models were used to estimate the risk factors for end-stage kidney disease. (springer.com)
  • The end-stage kidney disease-free survival was lower in patients in the isomorphic red blood cell group ( P = 0.024). (springer.com)
  • However, urine isomorphic red blood cells ≥ 70% could not predict the presence of end-stage kidney disease in multivariate Cox analysis. (springer.com)
  • Kutlar notes that the higher dose has been used in other disease states and well tolerated by patients. (news-medical.net)
  • Design and Methods A prospective multicenter study of 310 patients aged 3-20 years old with sickle cell disease under basal conditions and 54 matched controls was conducted. (haematologica.org)
  • Echocardiographic estimation of pulmonary artery pressure by measuring the tricuspid valve regurgitant jet velocity has been validated as a useful screening method for pulmonary hypertension in adult patients with sickle cell disease. (haematologica.org)
  • 1 - 3 Even though this definition includes mild elevations in pulmonary artery pressure, adult sickle cell disease patients with a regurgitant jet velocity of 2.5 m/sec or more have an increased risk of mortality. (haematologica.org)
  • In the 4 month analysis, significantly more patients in the high-hemoglobin compared to the low-hemoglobin arm were unable to achieve target hemoglobin and required high-dose epoetin-alpha. (nih.gov)
  • Prospective studies are needed to confirm this relationship and determine safe dosing algorithms for patients unable to achieve target hemoglobin. (nih.gov)
  • However, patients with severe disease may benefit from periodic transfusions or splenectomy. (msdmanuals.com)
  • There is no evidence that giving blood transfusions to patients with lower blood counts (haemoglobin levels of 7.0 g/dL to 8.0 g/dL) compared to higher blood counts (9.0 g/dL to 10.0 g/dL) affects risks of death, heart attack, myocardial infarction, stroke, pneumonia, blood clots or infection. (cochrane.org)
  • Eighty-four patients with Crohn's disease (CD) and twenty-four healthy volunteers were included. (nature.com)
  • Patients were divided into three groups according to the CDAI(Crohn's disease activity index)scores. (nature.com)
  • Patients with Crohn's disease (CD) develop various extraintestinal complications. (nature.com)
  • The study hypothesized that oxidative by-product like hydrogen peroxide (H 2 O 2 ), would reacts with hemoglobin (Hb) and help to initiate autoimmunity in patients with type 1 diabetes. (scialert.net)
  • Blood smears in patients with hemoglobin C disease usually reveal an excess of target cells. (mhmedical.com)
  • Le diagnostic de thalassémie a été posé chez six patients (19,4 %) et celui de déficit en glucose-6-phosphate déshydrogénase chez sept patients (22,6 %), parmi lesquels six patients étaient atteints d'une forme modérée et un patient d'une forme sévère. (who.int)
  • Patients with thalassaemia need regular transfusions of red blood cells (once or twice monthly) in order to maintain a mean haemoglobin concentration of about 9.0-10.5 g/dl. (who.int)
  • In some south-east Asian countries up to 40% of the population may carry significant haemoglobin mutations, resulting in increased rates of infants born with thalassaemia. (who.int)
  • Diagnosis and management of rare congenital nonimmune hemolytic disease. (degruyter.com)
  • We aimed to assess the proportion of OGTT -diagnosed diabetes cases that can be confirmed by HbA1c and to examine whether individuals with OGTT diagnosis but nondiagnostic HbA1c are at higher risk of macrovascular and microvascular disease . (bvsalud.org)
  • Both the heterozygous and homozygous states may induce erythrocyte dehydration (xerocytosis) and an elevated mean corpuscular hemoglobin concentration (MCHC) may be noted on a complete blood count. (medscape.com)
  • After adjustment for hemoglobin concentration, systolic blood pressure and left ventricular diastolic function, a 2 SD increase in the hemolytic index was associated with a 4.5-fold increase in the odds of elevated jet velocity ( p =0.009) and oxygen saturation ≤98% with a 3.2-fold increase ( p =0.028). (haematologica.org)
  • Hemoglobin concentration (Hb) is used clinically to determine the presence of anemia , which is functionally defined as insufficient red blood cell (RBC) mass to adequately deliver oxygen to peripheral tissues. (medscape.com)
  • Hemoglobin concentration (Hb) is usually reported as grams of hemoglobin per deciliter of blood (g/dL). (medscape.com)
  • Hemoglobin C (Hb C) is a common structural hemoglobin variant. (medscape.com)
  • Unstable haemoglobin variant Hb Leiden is detected on Sysmex XN-Series analysers. (degruyter.com)
  • 5. Mongelli, F, Barberio, G, Ivaldi, G. A rare and unstable hemoglobin variant, Hb M Dothan β 25/26 (-GTG), detected by the anomalous cytogram on Sysmex XE-2100. (degruyter.com)
  • The high molecular mass hemoglobin of the worm is the transporter for both oxygen and sulfide. (icr.org)
  • Molecular and cellular changes of hemoglobin S. (medscape.com)
  • An example of hemoglobin disease is sickle cell anemia. (ms.gov)
  • Sickle cell anemia mostly affects people of African descent but the disease can also affect people of Hispanic, Arabic, Indian or Mediterranean descent. (ms.gov)
  • Such challenges, including mixing procedures and transportation of calves to the veal farm, may have a negative influence on growth rate, feed intake, metabolism, immunity and disease susceptibility of calves. (frontiersin.org)
  • Cyanosis in hemoglobin M disease results from elevated levels of metHb and sulfhemoglobin (sulfHb). (wikipedia.org)
  • Is it safe to use lower blood counts (haemoglobin levels) as a trigger for blood transfusion in order to give fewer blood transfusions? (cochrane.org)
  • This study highlights the importance of maintaining iron levels after blood donation, and shows that supplemental iron effectively restores hemoglobin, even in donors with higher iron levels," explained the study's principal investigator, Joseph Kiss, M.D., medical director at the Institute for Transfusion Medicine and associate professor of medicine, University of Pittsburgh. (nih.gov)
  • Hemoglobin and iron levels were measured seven times during the study. (nih.gov)
  • Compared to donors who did not take iron, the donors taking iron supplements returned to pre-donation hemoglobin levels faster in both the lower iron (five weeks versus 23 weeks) and higher iron groups (four weeks versus 11 weeks). (nih.gov)
  • Low hemoglobin levels are found in CKD. (medicinenet.com)
  • Anemias are conditions that lead to low levels of hemoglobin or red blood cells in the body. (medicalnewstoday.com)
  • The spleen may have to be removed due to complications of sickle cell disease in an operation known as a splenectomy. (healthline.com)
  • All complications of sickle cell disease may occur but tend to be a milder degree. (childrenshospital.org)
  • Hemoglobin is an iron-containing protein in red blood cells that transports oxygen to tissues throughout the body. (cshlpress.com)
  • Hemoglobin is the oxygen-carrying component of red blood cells, and with sickle cell disease it's inefficient at this fundamental role. (news-medical.net)
  • Hemoglobin is an iron-containing respiratory protein in red blood cells that binds oxygen and then transports and releases it to cells that need oxygen. (icr.org)
  • Hemoglobin is an iron-containing oxygen-transport protein found in red blood cells. (icr.org)
  • The liver or bone marrow stores iron released from hemoglobin, which makes the next generation of blood cells. (medicalnewstoday.com)
  • The liver stores iron from hemoglobin in the form of ferritin, ready to make new red blood cells. (medicalnewstoday.com)
  • Hemoglobin is the main component of red blood cells and serves as the transporter for oxygen and carbon dioxide in the blood. (medscape.com)
  • This means that the fetal hemoglobn has a higher affinity for oxygen than the adult hemoglobin and transfer of oxygen from the low affinity HbA to the higher affinity HbF is thus enabled. (flashcardmachine.com)
  • Nevertheless, an association between hemolysis and pulmonary hypertension in sickle cell disease has been questioned because, in most studies thus far, not all markers of hemolysis have had significant associations with estimated pulmonary artery pressure. (haematologica.org)
  • Previous studies linking cadmium to human hypertension and cardiovascular disease is considered tenuous and unconvincing. (cdc.gov)
  • However, older thalassaemics may have to contend with multiple conditions including early osteoporosis, cardiac disease, pulmonary hypertension and diabetes, some of which result from increased iron deposition in the endocrine glands and myocardial cells. (who.int)
  • We prospectively followed 921 diabetic women in the Nurses' Health Study, who were free of cardiovascular disease at the time that blood was drawn in 1989/90. (bgu.ac.il)
  • After adjustment for nonmodifiable risk factors and compared with the 4997 diabetes-free participants, 371 participants with new HbA1c-confirmed diabetes and 405 participants with preexisting diabetes had increased risk of cardiovascular disease ( hazard ratio, 1.53 [95% CI, 1.12-2.10] and 1.85 [95% CI, 1.50-2.28], respectively). (bvsalud.org)
  • The data are taken to argue against a strong causal association between cadmium exposure and these cardiovascular disease risk indices. (cdc.gov)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • Washed-packed red blood cell specimens were processed, stored, and shipped to the Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA for analysis. (cdc.gov)
  • methemoglobin) and then converts it to hemoglobin cyanide (HiCN). (medscape.com)
  • Hemoglobin SS disease is the most common type of sickle cell disease. (healthline.com)
  • Hemoglobin SC disease is the second most common type of sickle cell disease. (healthline.com)
  • However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. (healthline.com)
  • The material in this report originated in the Laboratory Science, Policy, and Practice Program Office, May Chu, PhD, Director, and the National Center for Environmental Health/Agency for Toxic Substances and Disease Registry, Christopher J. Portier, PhD, Director. (cdc.gov)
  • It is suggested that studying continuous physiologic parameters rather than categorical disease classifications or end stage morbidity or mortality is a more sensitive method of detecting early effects of cadmium or other toxic substances. (cdc.gov)