A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
Hemolytic anemia due to various intrinsic defects of the erythrocyte.
A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
Immature, nucleated ERYTHROCYTES occupying the stage of ERYTHROPOIESIS that follows formation of ERYTHROID PRECURSOR CELLS and precedes formation of RETICULOCYTES. The normal series is called normoblasts. Cells called MEGALOBLASTS are a pathologic series of erythroblasts.
Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
Surgical procedure involving either partial or entire removal of the spleen.
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
A major integral transmembrane protein of the ERYTHROCYTE MEMBRANE. It is the anion exchanger responsible for electroneutral transporting in CHLORIDE IONS in exchange of BICARBONATE IONS allowing CO2 uptake and transport from tissues to lungs by the red blood cells. Genetic mutations that result in a loss of the protein function have been associated with type 4 HEREDITARY SPHEROCYTOSIS.
A broad category of proteins involved in the formation, transport and dissolution of TRANSPORT VESICLES. They play a role in the intracellular transport of molecules contained within membrane vesicles. Vesicular transport proteins are distinguished from MEMBRANE TRANSPORT PROTEINS, which move molecules across membranes, by the mode in which the molecules are transported.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The semi-permeable outer structure of a red blood cell. It is known as a red cell 'ghost' after HEMOLYSIS.
A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.

Erythroblastic synartesis: an auto-immune dyserythropoiesis. (1/81)

Erythroblastic synartesis is a rare form of acquired dyserythropoiesis, first described by Breton-Gorius et al in 1973. This syndrome is characterized by the presence of septate-like membrane junctions and "glove finger" invaginations between erythroblasts, which are very tightly linked together. This phenomenon, responsible for ineffective erythropoiesis, leads to an isolated severe anemia with reticulocytopenia. In the following report, we describe 3 new cases of erythroblastic synartesis associated with dysimmunity and monoclonal gammapathy. In all cases, the diagnosis was suggested by characteristic morphological appearance of bone marrow smears, and further confirmed by electron microscopy. Ultrastructural examination of abnormal erythroblast clusters showed that these cells were closely approximated with characteristic intercellular membrane junctions. The pathogenesis of the dyserythropoiesis was modeled in vitro using crossed erythroblast cultures and immunoelectron microscopy: when cultured in the presence of autologous serum, the erythroblasts from the patients displayed synartesis, whereas these disappeared when cultured in normal serum. Moreover, synartesis of normal erythroblasts were induced by the patient IgG fraction. Immunogold labeling showed that the monoclonal IgG were detected in, and restricted to, the synartesis. A discrete monoclonal plasmacytosis was also found in the patient bone marrow. The adhesion receptor CD36 appeared to be concentrated in the junctions, suggesting that it might be involved in the synartesis. These experiments indicated that a monoclonal serum immunoglobulin (IgG in the present cases) directed at erythroblast membrane antigen was responsible for the erythroblast abnormalities. Specific therapy of the underlying lymphoproliferation was followed by complete remission of the anemia in these cases.  (+info)

Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? (2/81)

BACKGROUND AND OBJECTIVE: Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recessive condition, whose manifestations range from mild to moderate. Its exact prevalence is unknown. Based on a recently established International Registry of CDA-II (64 unrelated kindreds), a high frequency of CDA II families living in South Italy became evident. DESIGN AND METHODS: The aim of this study was to define the haplotypes of the CDA II kindreds living in Southern Italy based on markers D20S884, D20S863, RPN, D20S841 and D20S908. These markers map to 20q11.2, within the interval of the CDAN2 gene that is responsible for CDA II. Next, we looked at these markers in kindreds from other regions of Italy and from other countries, with special attention to families having ancestors in Southern Italy. RESULTS: Evaluation of the geographic distribution of the ancestry of Italian CDA-II patients clearly demonstrated the unusually high incidence of this condition in Southern Italy. Our statistical calculations and linkage disequilibrium data also clearly demonstrate a strong association of the markers of chromosome 20 with the disease locus in our sample. Almost all the regions defined by the markers here used is in disequilibrium with the disease. Combining the data from the Italian sample together with those obtained from the non-Italian ones, we can restrict the area of highest disequilibrium to that defined by markers D20S863-D20S908. INTERPRETATION AND CONCLUSIONS: Despite the presence of this linkage disequilibrium the search for a common haplotype failed. This could suggest that the mutation was very old or that it occurred more than once on different genetic backgrounds.  (+info)

Congenital dyserythropoietic anemia type III. (3/81)

BACKGROUND AND OBJECTIVES: Congenital dyserythropoietic anemia type III (CDA-III) is a group of very rare disorders characterized by similar bone marrow morphology. The clinical picture is characterized by hemolytic anemia and dramatic bone marrow changes dominated by active erythropoiesis with big multinucleated erythroblasts. The aim of this review is to describe the clinical manifestations, laboratory findings, and management CDA-III. EVIDENCE AND INFORMATION SOURCES: The present review critically examines relevant articles and abstracts published in journals covered by the Science Citation Index and Medline. The authors have performed several studies on CDA-III. STATE OF ART AND PERSPECTIVES: The clinical and laboratory manifestations of CDA-III indicate that the gene responsible for it, which has been mapped to chromosome 15q22, is expressed not only in erythroblasts during mitosis but also in B-cells, and in cells of the retina. Preliminary results indicate genetic and phenotypic similarities between a Swedish and an American family, both with an autosomally dominant inherited form of CDA-III. It is possible that the genetic lesion is identical in these families, but the different phenotypes and modes of inheritance reported among some other cases of CDA-III are probably the results of other genetic lesions. At present, the function of the gene responsible for the Swedish (V sterbotten) variant of CDA-III (CDAN3) is unknown and it is an important goal to characterize and clone this gene in order to study its function.  (+info)

Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia. (4/81)

Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 diseases, both responsible for the iron overload. This report points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely, to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload. To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia.  (+info)

Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II). (5/81)

Type II congenital dyserythropoietic anaemia (CDA-II or HEMPAS) is an autosomal recessive disorder, representing the most frequent form of congenital dyserythropoiesis. It is characterised by normocytic anaemia, variable jaundice and hepato-splenomegaly. Gallbladder disease and secondary haemochromatosis are frequent complications. We report a case characterised by severe transfusion-dependent anaemia. The proband inherited CDA-II in association with beta-thalassaemia trait. Splenectomy did not abolish the transfusion dependence and this, in association with poor compliance to iron-chelation therapy, prompted us to consider bone marrow transplantation (BMT) from his HLA-identical sibling. The preparative regimen included busulfan, thiotepa and fludarabine, and graft-versus-host disease prophylaxis consisted of cyclosporin A and short-term methotrexate. Engraftment of donor cells was prompt and the post-transplant course uncomplicated. The patient is alive and transfusion-independent 36 months after allograft. This is the first case of severe CDA-II to undergo BMT. Analysis of this pedigree suggests that interaction with beta-thalassaemia enhanced the clinical severity of CDA-II, making BMT an attractive therapy for patients with transfusion dependence.  (+info)

Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated. (6/81)

Glycophorins A from erythrocyte membranes of two patients with congenital dyserythropoietic anemia type I and type II (CDA type I and II) were analyzed for carbohydrate molar composition employing a modification of the recently published method that allowed simultaneous determination of carbohydrates and protein in electrophoretic bands of glycoproteins separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (Zdebska & Koscielak, 1999, Anal Biochem., 275, 171-179). The modification involved a preliminary extraction of erythrocyte membranes with aqueous phenol, subsequent electrophoresis and analysis of the extracted glycophorins rather than electrophoresis and analysis of the glycophorin from intact erythrocyte membranes. The results showed a large deficit of N-acetylgalactosamine, galactose, and sialic acid residues in glycophorin A from patients with CDA type I and type II amounting to about 45% and 55%, respectively. The results strongly suggest that glycophorin A in these patients is partly unglycosylated with respect to O-linked glycans. In addition, glycophorin A from erythrocytes of a patient with CDA II but not CDA I exhibited a significant deficit of mannose and N-acetylglucosamine suggesting that its N-glycosylation site was also partly unglycosylated.  (+info)

Natural history of congenital dyserythropoietic anemia type II. (7/81)

Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recessive disease characterized by anemia, jaundice, splenomegaly, and erythroblast multinuclearity. The natural history of the disease is unknown. The frequency, the relevance of complications, and the use of splenectomy are poorly defined. This study examined 98 patients from unrelated families enrolled in the International Registry of CDA-II. Retrospective data were obtained using an appropriate questionnaire. The mean age at presentation was 5.2 +/- 6.1 years. Anemia was present in 66% and jaundice in 53.4% of cases. The mean age at correct diagnosis was 15.9 +/- 11.8 years. Twenty-three percent of patients for whom data were available developed anemia during the neonatal period, and 10 of these individuals required transfusions. Splenectomy produced an increased hemoglobin (P <.001) and a reduced bilirubin level (P =.007) in comparison with values before splenectomy. Preliminary data indicate that iron overload occurs irrespective of the hemochromatosis genotype. (Blood. 2001;98:1258-1260)  (+info)

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. (8/81)

GATA1 is the X-linked transcriptional activator required for megakaryocyte and erythrocyte differentiation. Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia. The three first GATA1 mutants display a disturbed binding to their essential transcription cofactor FOG1, whereas the fourth mutant shows an abnormal direct DNA binding. In this study, we describe a new family with deep macrothrombocytopenia, marked anemia and early mortality, if untreated, due to a different GATA1 mutation (D218Y) in the same residue 218 also implicated in the above mentioned milder phenotype. Zinc finger interaction studies revealed a stronger loss of affinity of D218Y-GATA1 than of D218G-GATA1 for FOG1 and a disturbed GATA1 self-association. Comparison of the phenotypic characteristics of patients from both families revealed that platelet and erythrocyte morphology as well as expression levels of the platelet GATA1-target gene products were more profoundly disturbed for the hemizygote D218Y mutation. The D218Y allele (as opposed to the D218G allele) was not expressed in the platelets of a female carrier while her leukocytes showed a skewed X-inactivation pattern. We conclude that the nature of the amino acid substitution at position 218 of the Nf of GATA1 is of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients and possibly also in inducing skewed X inactivation.  (+info)

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

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

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

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

Hemolytic anemia, congenital is a type of anemia that is present at birth and characterized by the abnormal breakdown (hemolysis) of red blood cells. This can occur due to various genetic defects that affect the structure or function of the red blood cells, making them more susceptible to damage and destruction.

There are several types of congenital hemolytic anemias, including:

1. Congenital spherocytosis: A condition caused by mutations in genes that affect the shape and stability of red blood cells, leading to the formation of abnormally shaped and fragile cells that are prone to hemolysis.
2. G6PD deficiency: A genetic disorder that affects the enzyme glucose-6-phosphate dehydrogenase (G6PD), which is essential for protecting red blood cells from damage. People with this condition have low levels of G6PD, making their red blood cells more susceptible to hemolysis when exposed to certain triggers such as infections or certain medications.
3. Hereditary elliptocytosis: A condition caused by mutations in genes that affect the structure and flexibility of red blood cells, leading to the formation of abnormally shaped and fragile cells that are prone to hemolysis.
4. Pyruvate kinase deficiency: A rare genetic disorder that affects an enzyme called pyruvate kinase, which is essential for the production of energy in red blood cells. People with this condition have low levels of pyruvate kinase, leading to the formation of fragile and abnormally shaped red blood cells that are prone to hemolysis.

Symptoms of congenital hemolytic anemia can vary depending on the severity of the condition but may include fatigue, weakness, pale skin, jaundice, dark urine, and an enlarged spleen. Treatment may involve blood transfusions, medications to manage symptoms, and in some cases, surgery to remove the spleen.

Anemia is a medical condition characterized by a lower than normal number of red blood cells or lower than normal levels of hemoglobin in the blood. Hemoglobin is an important protein in red blood cells that carries oxygen from the lungs to the rest of the body. Anemia can cause fatigue, weakness, shortness of breath, and a pale complexion because the body's tissues are not getting enough oxygen.

Anemia can be caused by various factors, including nutritional deficiencies (such as iron, vitamin B12, or folate deficiency), blood loss, chronic diseases (such as kidney disease or rheumatoid arthritis), inherited genetic disorders (such as sickle cell anemia or thalassemia), and certain medications.

There are different types of anemia, classified based on the underlying cause, size and shape of red blood cells, and the level of hemoglobin in the blood. Treatment for anemia depends on the underlying cause and may include dietary changes, supplements, medication, or blood transfusions.

Erythroblasts are immature red blood cells that are produced in the bone marrow. They are also known as normoblasts and are a stage in the development of red blood cells, or erythrocytes. Erythroblasts are larger than mature red blood cells and have a nucleus, which is lost during the maturation process. These cells are responsible for producing hemoglobin, the protein that carries oxygen in the blood. Abnormal increases or decreases in the number of erythroblasts can be indicative of certain medical conditions, such as anemia or leukemia.

Macrocytic anemia is a type of anemia in which the red blood cells are larger than normal in size (macrocytic). This condition can be caused by various factors such as deficiency of vitamin B12 or folate, alcohol abuse, certain medications, bone marrow disorders, and some inherited genetic conditions.

The large red blood cells may not function properly, leading to symptoms such as fatigue, weakness, shortness of breath, pale skin, and a rapid heartbeat. Macrocytic anemia can be diagnosed through a complete blood count (CBC) test, which measures the size and number of red blood cells in the blood.

Treatment for macrocytic anemia depends on the underlying cause. In cases of vitamin B12 or folate deficiency, supplements or dietary changes may be recommended. If the anemia is caused by medication, a different medication may be prescribed. In severe cases, blood transfusions or injections of vitamin B12 may be necessary.

Abnormal erythrocytes refer to red blood cells that have an abnormal shape, size, or other characteristics. This can include various types of abnormalities such as:

1. Anisocytosis: Variation in the size of erythrocytes.
2. Poikilocytosis: Variation in the shape of erythrocytes, including but not limited to teardrop-shaped cells (dacrocytes), crescent-shaped cells (sickle cells), and spherical cells (spherocytes).
3. Anemia: A decrease in the total number of erythrocytes or a reduction in hemoglobin concentration, which can result from various underlying conditions such as iron deficiency, chronic disease, or blood loss.
4. Hemoglobinopathies: Abnormalities in the structure or function of hemoglobin, the protein responsible for carrying oxygen in erythrocytes, such as sickle cell anemia and thalassemia.
5. Inclusion bodies: Abnormal structures within erythrocytes, such as Heinz bodies (denatured hemoglobin) or Howell-Jolly bodies (nuclear remnants).

These abnormalities can be detected through a complete blood count (CBC) and peripheral blood smear examination. The presence of abnormal erythrocytes may indicate an underlying medical condition, and further evaluation is often necessary to determine the cause and appropriate treatment.

Erythropoiesis is the process of forming and developing red blood cells (erythrocytes) in the body. It occurs in the bone marrow and is regulated by the hormone erythropoietin (EPO), which is produced by the kidneys. Erythropoiesis involves the differentiation and maturation of immature red blood cell precursors called erythroblasts into mature red blood cells, which are responsible for carrying oxygen to the body's tissues. Disorders that affect erythropoiesis can lead to anemia or other blood-related conditions.

A splenectomy is a surgical procedure in which the spleen is removed from the body. The spleen is an organ located in the upper left quadrant of the abdomen, near the stomach and behind the ribs. It plays several important roles in the body, including fighting certain types of infections, removing old or damaged red blood cells from the circulation, and storing platelets and white blood cells.

There are several reasons why a splenectomy may be necessary, including:

* Trauma to the spleen that cannot be repaired
* Certain types of cancer, such as Hodgkin's lymphoma or non-Hodgkin's lymphoma
* Sickle cell disease, which can cause the spleen to enlarge and become damaged
* A ruptured spleen, which can be life-threatening if not treated promptly
* Certain blood disorders, such as idiopathic thrombocytopenic purpura (ITP) or hemolytic anemia

A splenectomy is typically performed under general anesthesia and may be done using open surgery or laparoscopically. After the spleen is removed, the incision(s) are closed with sutures or staples. Recovery time varies depending on the individual and the type of surgery performed, but most people are able to return to their normal activities within a few weeks.

It's important to note that following a splenectomy, individuals may be at increased risk for certain types of infections, so it's recommended that they receive vaccinations to help protect against these infections. They should also seek medical attention promptly if they develop fever, chills, or other signs of infection.

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

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

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

Anion Exchange Protein 1, Erythrocyte (AE1), also known as Band 3 protein or SLC4A1, is a transmembrane protein found in the membranes of red blood cells (erythrocytes). It plays a crucial role in maintaining the pH and bicarbonate levels of the blood by facilitating the exchange of chloride ions (Cl-) with bicarbonate ions (HCO3-) between the red blood cells and the plasma.

The anion exchange protein 1 is composed of three major domains: a cytoplasmic domain, a transmembrane domain, and an extracellular domain. The cytoplasmic domain interacts with various proteins involved in regulating the cytoskeleton of the red blood cell, while the transmembrane domain contains the ion exchange site. The extracellular domain is responsible for the interaction between red blood cells and contributes to their aggregation.

Mutations in the AE1 gene can lead to various inherited disorders, such as hereditary spherocytosis, Southeast Asian ovalocytosis, and distal renal tubular acidosis type 1. These conditions are characterized by abnormal red blood cell shapes, impaired kidney function, or both.

Vesicular transport proteins are specialized proteins that play a crucial role in the intracellular trafficking and transportation of various biomolecules, such as proteins and lipids, within eukaryotic cells. These proteins facilitate the formation, movement, and fusion of membrane-bound vesicles, which are small, spherical structures that carry cargo between different cellular compartments or organelles.

There are several types of vesicular transport proteins involved in this process:

1. Coat Proteins (COPs): These proteins form a coat around the vesicle membrane and help shape it into its spherical form during the budding process. They also participate in selecting and sorting cargo for transportation. Two main types of COPs exist: COPI, which is involved in transport between the Golgi apparatus and the endoplasmic reticulum (ER), and COPII, which mediates transport from the ER to the Golgi apparatus.

2. SNARE Proteins: These proteins are responsible for the specific recognition and docking of vesicles with their target membranes. They form complexes that bring the vesicle and target membranes close together, allowing for fusion and the release of cargo into the target organelle. There are two types of SNARE proteins: v-SNAREs (vesicle SNAREs) and t-SNAREs (target SNAREs), which interact to form a stable complex during membrane fusion.

3. Rab GTPases: These proteins act as molecular switches that regulate the recruitment of coat proteins, motor proteins, and SNAREs during vesicle transport. They cycle between an active GTP-bound state and an inactive GDP-bound state, controlling the various stages of vesicular trafficking, such as budding, transport, tethering, and fusion.

4. Tethering Proteins: These proteins help to bridge the gap between vesicles and their target membranes before SNARE-mediated fusion occurs. They play a role in ensuring specificity during vesicle docking and may also contribute to regulating the timing of membrane fusion events.

5. Soluble N-ethylmaleimide-sensitive factor Attachment Protein Receptors (SNAREs): These proteins are involved in intracellular transport, particularly in the trafficking of vesicles between organelles. They consist of a family of coiled-coil domain-containing proteins that form complexes to mediate membrane fusion events.

Overall, these various classes of proteins work together to ensure the specificity and efficiency of vesicular transport in eukaryotic cells. Dysregulation or mutation of these proteins can lead to various diseases, including neurodegenerative disorders and cancer.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

An erythrocyte, also known as a red blood cell, is a type of cell that circulates in the blood and is responsible for transporting oxygen throughout the body. The erythrocyte membrane refers to the thin, flexible barrier that surrounds the erythrocyte and helps to maintain its shape and stability.

The erythrocyte membrane is composed of a lipid bilayer, which contains various proteins and carbohydrates. These components help to regulate the movement of molecules into and out of the erythrocyte, as well as provide structural support and protection for the cell.

The main lipids found in the erythrocyte membrane are phospholipids and cholesterol, which are arranged in a bilayer structure with the hydrophilic (water-loving) heads facing outward and the hydrophobic (water-fearing) tails facing inward. This arrangement helps to maintain the integrity of the membrane and prevent the leakage of cellular components.

The proteins found in the erythrocyte membrane include integral proteins, which span the entire width of the membrane, and peripheral proteins, which are attached to the inner or outer surface of the membrane. These proteins play a variety of roles, such as transporting molecules across the membrane, maintaining the shape of the erythrocyte, and interacting with other cells and proteins in the body.

The carbohydrates found in the erythrocyte membrane are attached to the outer surface of the membrane and help to identify the cell as part of the body's own immune system. They also play a role in cell-cell recognition and adhesion.

Overall, the erythrocyte membrane is a complex and dynamic structure that plays a critical role in maintaining the function and integrity of red blood cells.

Aplastic anemia is a medical condition characterized by pancytopenia (a decrease in all three types of blood cells: red blood cells, white blood cells, and platelets) due to the failure of bone marrow to produce new cells. It is called "aplastic" because the bone marrow becomes hypocellular or "aplastic," meaning it contains few or no blood-forming stem cells.

The condition can be acquired or inherited, with acquired aplastic anemia being more common. Acquired aplastic anemia can result from exposure to toxic chemicals, radiation, drugs, viral infections, or autoimmune disorders. Inherited forms of the disease include Fanconi anemia and dyskeratosis congenita.

Symptoms of aplastic anemia may include fatigue, weakness, shortness of breath, pale skin, easy bruising or bleeding, frequent infections, and fever. Treatment options for aplastic anemia depend on the severity of the condition and its underlying cause. They may include blood transfusions, immunosuppressive therapy, and stem cell transplantation.

Hemolytic anemia is a type of anemia that occurs when red blood cells are destroyed (hemolysis) faster than they can be produced. Red blood cells are essential for carrying oxygen throughout the body. When they are destroyed, hemoglobin and other cellular components are released into the bloodstream, which can lead to complications such as kidney damage and gallstones.

Hemolytic anemia can be inherited or acquired. Inherited forms of the condition may result from genetic defects that affect the structure or function of red blood cells. Acquired forms of hemolytic anemia can be caused by various factors, including infections, medications, autoimmune disorders, and certain medical conditions such as cancer or blood disorders.

Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, pale skin, jaundice (yellowing of the skin and eyes), dark urine, and a rapid heartbeat. Treatment for hemolytic anemia depends on the underlying cause and may include medications, blood transfusions, or surgery.

Bone marrow is the spongy tissue found inside certain bones in the body, such as the hips, thighs, and vertebrae. It is responsible for producing blood-forming cells, including red blood cells, white blood cells, and platelets. There are two types of bone marrow: red marrow, which is involved in blood cell production, and yellow marrow, which contains fatty tissue.

Red bone marrow contains hematopoietic stem cells, which can differentiate into various types of blood cells. These stem cells continuously divide and mature to produce new blood cells that are released into the circulation. Red blood cells carry oxygen throughout the body, white blood cells help fight infections, and platelets play a crucial role in blood clotting.

Bone marrow also serves as a site for immune cell development and maturation. It contains various types of immune cells, such as lymphocytes, macrophages, and dendritic cells, which help protect the body against infections and diseases.

Abnormalities in bone marrow function can lead to several medical conditions, including anemia, leukopenia, thrombocytopenia, and various types of cancer, such as leukemia and multiple myeloma. Bone marrow aspiration and biopsy are common diagnostic procedures used to evaluate bone marrow health and function.

Erythrocytes, also known as red blood cells (RBCs), are the most common type of blood cell in circulating blood in mammals. They are responsible for transporting oxygen from the lungs to the body's tissues and carbon dioxide from the tissues to the lungs.

Erythrocytes are formed in the bone marrow and have a biconcave shape, which allows them to fold and bend easily as they pass through narrow blood vessels. They do not have a nucleus or mitochondria, which makes them more flexible but also limits their ability to reproduce or repair themselves.

In humans, erythrocytes are typically disc-shaped and measure about 7 micrometers in diameter. They contain the protein hemoglobin, which binds to oxygen and gives blood its red color. The lifespan of an erythrocyte is approximately 120 days, after which it is broken down in the liver and spleen.

Abnormalities in erythrocyte count or function can lead to various medical conditions, such as anemia, polycythemia, and sickle cell disease.

... type IV". www.orpha.net. Retrieved 2016-01-29. "Congenital dyserythropoietic anemia, type I ... is the most frequent type of congenital dyserythropoietic anemias. The symptoms and signs of congenital dyserythropoietic ... Congenital dyserythropoietic anemia has four different subtypes, CDA Type I, CDA Type II, CDA Type III, and CDA Type IV. CDA ... Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of ...
"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV; CDAN4". Omim.org. Retrieved 6 May 2015. Congenital dyserythropoietic anemia at ... Congenital dyserythropoietic anemia Thalassemia Hemoglobinopathy List of hematologic conditions "Congenital dyserythropoietic ... Congenital dyserythropoietic anemia type IV (CDA IV) has been described with typical morphologic features of CDA II but a ... Congenital dyserythropoietic anemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ...
Congenital dyserythropoietic anemia at the US National Institutes of Health Home Genetic Reference (Articles with short ... 2003). "Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term ... Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with positive acidified ... McCann, Shaun R; Firth, R; Murray, Nuala; Temperley, I J (1980). "Congenital dyserythropoietic anaemia type II (HEMPAS): A ...
Home Reference GeneReviews/NCBI/NIH/UW entry on Congenital Dyserythropoietic Anemia Type I Congenital dyserythropoietic anemia ... Congenital dyserythropoietic anemia Thalassemia Hemoglobinopathy List of hematologic conditions Congenital dyserythropoietic ... anaemia type I - Enerca (European Network for Rare and Congenital Anaemias) website congenital dyserythropoietic anemia - ... Congenital dyserythropoietic anemia type I (CDA I) is a disorder of blood cell production, particularly of the production of ...
... to chromosome 15q21-q25 congenital dyserythropoietic anemia - Genetic Home References Congenital dyserythropoietic anemia at ... Congenital dyserythropoietic anemia type III (CDA III) is a rare autosomal dominant disorder characterized by macrocytic anemia ... Potential cures include bone marrow transplantation and gene therapy.[citation needed] Congenital dyserythropoietic anemia ... Thalassemia Hemoglobinopathy List of hematologic conditions Localization of the gene for congenital dyserythropoietic anemia ...
... autoimmune hemolytic anemia, hemolysis secondary to drug toxicity, thalassemia minor, and congenital dyserythropoietic anemias ... "Congenital dyserythropoietic anemia - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-04-14. Orf K, Cunnington ... Kamiya T, Manabe A (October 2010). "Congenital dyserythropoietic anemia". International Journal of Hematology. 92 (3): 432-8. ... Hemolysis secondary to drug toxicity Thalassemia minor Congenital dyserythropoietic anemia The above list is not exhaustive, ...
AR Anemia, congenital dyserythropoietic, type I; 224120; CDAN1 Anemia, dyserythropoietic congenital, type II; 224100; SEC23B ... SCN5A Heinz body anemia; 140700; HBA2 Heinz body anemias, alpha-; 140700; HBA1 Heinz body anemias, beta-; 140700; HBB HELLP ... RPL5 Diamond-Blackfan anemia 7; 612562; RPL11 Diamond-Blackfan anemia 8; 612563; RPS7 Diamond-Blackfan anemia 9; 613308; RPS10 ... KCNJ11 Diamond-Blackfan anemia 1; 105650; RPS19 Diamond-Blackfan anemia 10; 613309; RPS26 Diamond-Blackfan anemia 4; 612527; ...
Congenital/inherited causes include congenital dyserythropoietic anemia, thalassemia, pyruvate kinase deficiency, hereditary ... Erythropoiesis Erythrocyte Congenital dyserythropoietic anemia Orkin, S.H.; Nathan, D.G. (2009). Nathan and Oski's Hematology ... This problem can be congenital, acquired, or inherited. Some red blood cells may be destroyed within the bone marrow during the ... These abnormalities can be functional and/or morphological, which can lead to anemia since there may be increased turnover of ...
"Congenital dyserythropoietic anaemia type II: a rare entity". BMJ Case Reports. 2011: bcr0120113684. doi:10.1136/bcr.01.2011. ... The underlying cause can be attributed to various anemias, most often; beta thalassemia major, a form of microcytic anemia. In ...
"Congenital Dyserythropoietic Anemia Type I is Caused by Mutations in Codanin-1". The American Journal of Human Genetics. 71 (6 ...
... indicates PNH or congenital dyserythropoietic anemia. This is now an obsolete test for diagnosing PNH due to its low ... As one fourth of PNH cases progress to aplastic anemia, Ham's test is occasionally positive in AA. Ham, Thomas H. (1937). " ... "Chronic Hemolytic Anemia with Paroxysmal Nocturnal Hemoglobinuria". New England Journal of Medicine. 217 (23): 915-7. doi: ...
... indicates PNH or Congenital dyserythropoietic anemia. This is now an obsolete test for diagnosing PNH due to its low ... In this case, anemia may be caused by insufficient red blood cell production in addition to the hemolysis. Historically, the ... It may develop on its own ("primary PNH") or in the context of other bone marrow disorders such as aplastic anemia ("secondary ... If the PNH occurs in the setting of known (or suspected) aplastic anemia, abnormal white blood cell counts and decreased ...
2003). "Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1". Am. J. Hum. Genet. 71 (6): 1467-74. ...
2003). "Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1". Am. J. Hum. Genet. 71 (6): 1467-74. ...
2003). "Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1". Am. J. Hum. Genet. 71 (6): 1467-74. ...
... sickle-cell disease and congenital dyserythropoietic anemia). Defective red cell metabolism (as in glucose-6-phosphate ... Hemolytic anemia or haemolytic anaemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), ... Symptoms of hemolytic anemia include those that can occur in all anemias as well as the specific consequences of hemolysis. All ... Symptoms of hemolytic anemia are similar to other forms of anemia (fatigue and shortness of breath), but in addition, the ...
Symptoms for Congenital Dyserythropoietic Anemia type II include anemia, jaundice, low reticulocyte count, splenomegaly, and ... Problems with COP II early secretory pathways can lead to a disease called Congenital Dyserythropoietic Anemia type II. This is ... Congenital Dyserythropoeitic Anemia Type II is normally diagnosed during adolescence or early adulthood. Congenital ... "Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation". ...
"A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia ... however semi-dominant mutations have been identified in humans and mice as the cause of a rare inherited anemia CDA type IV. ...
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis, uncommon childhood diseases of unknown ... The association of Sweet syndrome with chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia in ... congenital dyserythropoietic anemia, and neutrophilic dermatosis. To date, two unrelated families with Majeed syndrome have ... "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the ...
Structural features of these cells were similar to those observed in congenital dyserythropoietic anemia. -183G>A: rare Single- ... mutations in the N-ZnF motif of GATA1 and GATA1-S are associated with diseases similar to congenital dyserythropoietic anemia, ... anemia with structural features in bone marrow red cell precursors similar to those observed in congenital dyserythropoietic ... regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II". ...
... congenital dyserythropoietic anemia and a neutrophilic dermatosis. It is classified as an autoinflammatory bone disorder. The ... Red blood transfusions could also be done for patients with severe congenital dyserythrypoietic anemia (CDA). TNF receptor ...
Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional ...
"Congenital dyserythropoietic anemia". Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health ... Caudill JS, Imran H, Porcher JC, Steensma DP (October 2008). "Congenital sideroblastic anemia associated with germline ... There are several kinds of anemia, produced by a variety of underlying causes. Anemia can be classified in a variety of ways, ... "Anemia of prematurity". Retrieved 2010-05-31. Aplastic anemia Archived 2009-04-22 at the Wayback Machine at Mount Sinai ...
Congenital dyserythropoietic anemias List of hematologic conditions Nelson Textbook of Pediatrics, 18th ed v t e (Medical ... anemia. It is a condition characterised by the presence or abundance of dysfunctional progenitor cells. ... terminology, Anemias, All stub articles, Disease stubs, Cardiovascular system stubs). ...
... while Sec23B variants are associated with the bone marrow disease congenital dyserythropoietic anemia type II and some cancers ...
A deficiency Hemoglobinopathies/genetic conditions of hemoglobin Sickle cell anemia Congenital dyserythropoietic anemia ... Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders. Basically classified by ... This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Archived 2016-09-19 at the Wayback Machine Retrieved ...
Congenital deafness Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia ... bowel Congenital short femur Congenital skeletal disorder Congenital skin disorder Congenital spherocytic anemia Congenital ... Congenital hemolytic anemia Congenital hepatic fibrosis Congenital hepatic porphyria Congenital herpes simplex Congenital ... Congenital s Congenital megacolon Congenital megaloureter Congenital mesoblastic nephroma Congenital microvillous atrophy ...
... sickle-cell disease and congenital dyserythropoietic anemia) Defective red cell metabolism (as in glucose-6-phosphate ... Low-grade hemolytic anemia occurs in 70% of prosthetic heart valve recipients, and severe hemolytic anemia occurs in 3%. ... autoimmune haemolytic anaemia, drug-induced hemolytic anemia, atypical hemolytic uremic syndrome (aHUS)), some genetic ... Lead poisoning or poisoning by arsine or stibine causes non-immune hemolytic anemia. Runners can develop hemolytic anemia due ...
... a healthcare documentation standard Congenital dyserythropoietic anemia, a blood condition Cytidine deaminase, an enzyme ...
Inborn genetic mutations of the Methionine synthase gene Di Guglielmo's syndrome Congenital dyserythropoietic anemia Copper ... Megaloblastic anemia is a type of macrocytic anemia. An anemia is a red blood cell defect that can lead to an undersupply of ... Megaloblastic anemia is a blood disorder in which there is anemia with larger-than-normal red blood cells. Anemia is a ... Megaloblastic anemia has a rather slow onset, especially when compared to that of other anemias. The defect in red cell DNA ...
... causing deficient globin synthesis Congenital dyserythropoietic anemias, causing ineffective erythropoiesis Anemia of kidney ... The types of anemia treated with drugs are Iron deficiency anemia, thalassemia, aplastic anemia, hemolytic anemia, sickle cell ... Look up anemia in Wiktionary, the free dictionary. Anemia, U.S. National Library of Medicine [About Anemia] (CS1: long volume ... Fanconi anemia is a hereditary disorder or defect featuring aplastic anemia and various other abnormalities. Anemia of kidney ...
Congenital dyserythropoietic anemia type IV". www.orpha.net. Retrieved 2016-01-29. "Congenital dyserythropoietic anemia, type I ... is the most frequent type of congenital dyserythropoietic anemias. The symptoms and signs of congenital dyserythropoietic ... Congenital dyserythropoietic anemia has four different subtypes, CDA Type I, CDA Type II, CDA Type III, and CDA Type IV. CDA ... Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of ...
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. ... medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia/ Congenital dyserythropoietic anemia. ... The congenital dyserythropoietic anemias. Hematol Oncol Clin North Am. 2009 Apr;23(2):283-306. doi: 10.1016/j.hoc.2009.01.010. ... Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This ...
Congenital dyserythropoietic anemia. Disease definition Congenital dyserythropoietic anemia (CDA) is a heterogenous group of ... Symptoms of anemia include fatigue, failure to thrive in infants, headache, dizziness, leg cramps, tachycardia and insomnia. ... Patients share chronic anemia of variable severity and jaundice, frequently associated with splenomegaly and/or hepatomegaly. ... In CDA II, the most frequent type, anemia and/or jaundice is usually detected in children or young adults with splenomegaly. ...
Congenital dyserythropoietic anemia. (2009,July). http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia. ... Congenital dyserythropoietic anemia CDA rare blood disease is inherited. Doctors often include it in the group of anemias that ... Your doctor may use this test to help diagnose paroxysmal nocturnal hemoglobinuria (PNH) or congenital dyserythropoietic anemia ... CDA type 1 causes mild anemia. Doctors usually diagnose it in early childhood. It can cause iron overload. The usual treatment ...
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. ... Adult, Aged, Anemia, Dyserythropoietic, Congenital, DNA Mutational Analysis, Female, Genetic Linkage, Glycoproteins, Humans, ... Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. ...
Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the ... New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II. ... New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II. International Journal of Molecular ... It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. This ...
Congenital dyserythropoietic anemia. Congenital dyserythropoietic anemia (CDA) is a group of rare red blood cell disorders ... Gambale A, Iolascon A, Andolfo I, Russo R. Diagnosis and management of congenital dyserythropoietic anemias. Expert Rev Hematol ... Iolascon A, Heimpel H, Wahlin A, Tamary H. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. ... Heimpel H, Schwarz K, Ebnother M. Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, ...
"Congenital Dyserythropoietic Anemias." Syndromes: Rapid Recognition and Perioperative Implications, 2e Bissonnette B, ... Congenital Dyserythropoietic Anemias. In: Bissonnette B, Luginbuehl I, Engelhardt T. Bissonnette B, & Luginbuehl I, & ... Congenital dyserythropoietic anemias. Bissonnette B, Luginbuehl I, Engelhardt T. Bissonnette B, & Luginbuehl I, & Engelhardt T( ... Three main types of congenital dyserythropoietic anemia (CDA I-III) and four other extremely rare types have been described. ...
Physiologically, anemia is a condition in which reduced hematocrit or hemoglobin levels lead to diminished oxygen-carrying ... Pediatric anemia refers to a hemoglobin or hematocrit level lower than the age-adjusted reference range for healthy children. ... Nutritional anemia secondary to iron, folate, or vitamin B-12 deficiency. * Congenital dyserythropoietic anemia ... Anemia caused by decreased red cell production. This generally develops gradually and causes chronic anemia. Marrow failure may ...
Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A,G, (p.Tyr462Cys) Mutation in the Indian Population. ... Congenital dyserythropoietic anemia, type II MedGen: C1306589 OMIM: 224100 GeneReviews: Not available ... New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II. Musri MM, et al. Int J Mol Sci, ... Title: Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A,G, (p.Tyr462Cys) Mutation in the Indian ...
Open the PDF for Congenital Dyserythropoietic Anemia with Ultrastructure Findings Compatible with both Types I and II in ... Congenital Dyserythropoietic Anemia with Ultrastructure Findings Compatible with both Types I and II ... View article titled, Congenital Dyserythropoietic Anemia with Ultrastructure Findings Compatible with both Types I and II ...
Congenital dyserythropoietic anaemia type I (CDA-I) is one of a heterogeneous group of inherited anaemias characterised by ... congenital dyserythropoetic anaemia, dyserythropoiesis, erythropoiesis, Alleles, Anemia, Dyserythropoietic, Congenital, Genetic ... Congenital dyserythropoietic anaemia type I (CDA-I) is one of a heterogeneous group of inherited anaemias characterised by ...
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I ... Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I ...
Mutations in KLF1 cause dyserythropoietic anemia congenital type IV (OMIM: 613673).. TMEM106B [P SKAT.corr , 1.00E-03 and P ... Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system ... Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. Hum Mutat. ( ... Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. Eur ...
Congenital dyserythropoietic anemia. Delayed neuro-psychological development.. Listed: Sep 2021. $1,005.50. has been donated ... He has congenital hydronephrosis grade 3 of both kidneys with congenital mega-ureters and is underdeveloped in his neurological ... She is receiving monthly blood transfusions at this time for her anemia. She had surgery to correct clubbed feet in 2020. She ... He also has G6PD and mild anemia. Jonte attends an early intervention program at a local Developmental Center where he receives ...
Congenital dyserythropoietic anemia. *Congenital dyserythropoietic anemia, type I. *Congenital dyserythropoietic anemia, type ... Bruhls disease (splenic anemia with fever) 285.8. *Disease, diseased - see also Syndrome*. Bruhls (splenic anemia with fever ... Short description: Anemia NEC.. *ICD-9-CM 285.8 is a billable medical code that can be used to indicate a diagnosis on a ... Home > 2014 ICD-9-CM Diagnosis Codes > Diseases Of The Blood And Blood-Forming Organs 280-289 > Other and unspecified anemias ...
Gene Description: congenital dyserythropoietic anemia, type I (human). Synonyms: 1500015A01Rik, CDA1, CDA-I, codanin-1. Gene ...
Spectrum of severity from asymptomatic to severe anemia and skeletal changes. Blood transfusions are required for beta- ... Congenital dyserythropoietic anemia (CDA). *Pyruvate kinase (PK) deficiency. *Mild iron deficiency anemia ... Beta-thalassemia is an inherited microcytic anemia caused by mutation(s) of the beta-globin gene leading to decreased or absent ... Spectrum of severity from asymptomatic to severe anemia and skeletal changes.. Blood transfusions are required for beta- ...
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat. Genet. ... The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. Eur. J. Hum. ... Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res. ... as well as the relevance of the Fanconi anemia pathway, as also underlined by previous studies [21,22,23]. ...
Congenital Dyserythropoietic Anemia ... Alzheimers diseaseAnemiaArthritisAsthmaAutismBipolar disorder ...
Congenital dyserythropoietic anemias (CDAs) are phenotypically and genotypically heterogeneous diseases. CDA type II (CDAII) is ... Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. ...
... and the discovery of RACGAP1 as the gene responsible for autosomal recessive congenital dyserythropoietic anaemia type III  ...
LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia ( ...
Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional ... congenital dyserythropoietic anemia, type I (human) antikoerper, CDAN1 antikoerper, Cdan1 antikoerper Hintergrund This gene ...
Other sideroblastic anemias. D64.4. Congenital dyserythropoietic anemia. D64.81. Anemia due to antineoplastic chemotherapy. ... Vitamin B12 deficiency anemia due to intrinsic factor deficiency. D51.1. Vitamin B12 deficiency anemia due to selective vitamin ... Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate. Q90.0. Trisomy 21, nonmosaicism ( ... Secondary sideroblastic anemia due to drugs and toxins. D64.3. ... Drug-induced aplastic anemia. D61.2. Aplastic anemia due to ...
Pancytopenia, Congenital hypoplastic anemia, Cryptorchidism, Hepatosplenomegaly, Leukopenia, Iron.... OMIM:619488. Yellow Fever ... Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased .... ORPHA:3202. ... Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,.... OMIM:304790. Severe ... Hyponatremia, Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Hypercalcemi.... ORPHA:199299. Familial ...
Rare inherited anaemias include Diamond-Blackfan anaemia (DBA), congenital dyserythropoietic anaemias (CDA), congenital ... What if I need a genetic blood grouping result on my patient with sickle cell/thalassaemia/rare inherited anaemia before the ... If you have sickle cell disorder, thalassemia or another inherited anaemia, please see our frequently asked questions for ... In thalassaemia, people cannot produce enough haemoglobin, causing severe anaemia, which can be fatal if not treated with blood ...
Aplastic anaemia. *Fanconis anaemia. *Congenital dyserythropoietic anaemia. *Sickle cell anaemia. *Thalassaemia major ...
... rare anaemias include Diamond-Blackfan anaemia (DBA), congenital dyserythropoietic anaemias (CDA), congenital sideroblastic ... where anaemia comprises one of the constellation of symptoms. ...
  • CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. (wikipedia.org)
  • Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. (orpha.net)
  • Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. (uic.es)
  • This is a group of inherited disorders characterized by quantitatively and qualitatively altered erythropoiesis resulting in usually mild-to-moderate anemia. (mhmedical.com)
  • Congenital dyserythropoietic anaemia type I (CDA-I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. (ox.ac.uk)
  • Beta-thalassemia is an inherited microcytic anemia caused by mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis. (bmj.com)
  • Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. (antikoerper-online.de)
  • The dyserythropoiesis of arsenic poisoning mimics that seen in megaloblastic anemia and has morphologic features similar to erythropoiesis in myelodysplastic syndrome. (mhmedical.com)
  • Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities. (bvsalud.org)
  • These findings will likely improve understanding of disordered erythropoiesis, including thalassemia, myelodysplastic syndrome, and congenital dyserythropoietic anemia, and guide future studies that focus on CDKIs. (biomedcentral.com)
  • Your doctor may use this test to help diagnose paroxysmal nocturnal hemoglobinuria (PNH) or congenital dyserythropoietic anemia (CDA). (healthline.com)
  • Doctors often include it in the group of anemias that involve reduced hemoglobin synthesis, or thalassemia. (healthline.com)
  • Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. (haematologica.org)
  • If you have sickle cell disorder, thalassemia or another inherited anaemia, please see our frequently asked questions for patients . (nhsbt.nhs.uk)
  • Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). (ghcgenetics.com)
  • Hb Bart syndrome is a severe form of anemia secondary to alpha thalassemia. (ghcgenetics.com)
  • Other forms of genetic anaemias can also be considered while establishing NGS panels, in particular genetic syndromes, where anaemia comprises one of the constellation of symptoms. (b-s-h.org.uk)
  • The Fanconi Anemia (FA) core complex localizes to chromatin during the S phase and in response to DNA damage. (kupferlab.org)
  • Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. (nih.gov)
  • Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. (ox.ac.uk)
  • Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia]. (nih.gov)
  • Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II. (nih.gov)
  • Researching the genetic basis of anaemia, alpha-globin gene regulation and haemoglobin switching. (ox.ac.uk)
  • As part of this work I have identified a novel gene, C15ORF41, underlying a type of anaemia termed Congenital Dyserythropoietic Anaemia type I (CDA-I) (Babbs et al. (ox.ac.uk)
  • Many studies have shown the deleterious effects of iron deficiency anemia or iron deficiency without anemia on the neurocognitive and behavioral development in children. (medscape.com)
  • Rare inherited anaemias include Diamond-Blackfan anaemia (DBA), congenital dyserythropoietic anaemias (CDA), congenital sideroblastic anaemias (CSA), and disorders of red cell membrane and enzymes, such as hereditary spherocytosis and pyruvate kinase deficiency (if transfusion dependent). (nhsbt.nhs.uk)
  • hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. (icdlist.com)
  • D50.1- Sideropenic dysphagia (web-like membranes in the throat making swallowing difficult, caused by iron deficiency anemia). (grantsformedical.com)
  • D51.0- Vitamin B12 deficiency anemia due to intrinsic factor (IF) deficiency. (grantsformedical.com)
  • D51.3- Other dietary vitamin B12 deficiency anemia. (grantsformedical.com)
  • Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al. (nih.gov)
  • Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). (nih.gov)
  • acquired hemolytic anemia due to the presence of autoantibodies which agglutinate or lyse the patient's own red blood cells. (icdlist.com)
  • hemolytic anemia due to various intrinsic defects of the erythrocyte. (icdlist.com)
  • Congenital dyserythropoietic anemia has four different subtypes, CDA Type I, CDA Type II, CDA Type III, and CDA Type IV. (wikipedia.org)
  • CDA type II (CDA II) is the most frequent type of congenital dyserythropoietic anemias. (wikipedia.org)
  • Congenital Dyserythropoietic Anemia Type I. Seattle (WA): University of Washington, Seattle. (wikipedia.org)
  • CDA type I is characterized by moderate to severe anemia. (medlineplus.gov)
  • The anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. (medlineplus.gov)
  • In CDA II, the most frequent type, anemia and/or jaundice is usually detected in children or young adults with splenomegaly. (orpha.net)
  • CDA type 1 causes mild anemia. (healthline.com)
  • The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I. (ox.ac.uk)
  • Congenital dyserythropoietic anemia, type I. Note nuclear bridging in erythroblasts. (mhmedical.com)
  • Congenital dyserythropoietic anemia, type I. Note erythroblast with double nucleus. (mhmedical.com)
  • ICD 10 code for anemia varies depending on the specific type and cause. (grantsformedical.com)
  • Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). (uams.edu)
  • The symptoms and signs of congenital dyserythropoietic anemia are consistent with: Tiredness (fatigue) Weakness Pale skin The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the entire coding region, types I, II, III and IV ( is a relatively new form of CDA that had been found, just 4 cases have been reported) according to the genetic testing registry. (wikipedia.org)
  • In approximately half of the cases, the diagnosis is made in the neonatal period secondary to significant anemia. (mhmedical.com)
  • In the other half, the diagnosis is commonly made later in childhood or adolescence secondary to mild anemia with intermittent jaundice, splenomegaly, and sometimes hepatomegaly. (mhmedical.com)
  • D64.9 is a billable ICD-10 code used to specify a medical diagnosis of anemia, unspecified. (icdlist.com)
  • Appropriate code for malignancy is sequenced as the principal diagnosis or first-listed Dx, followed by the code for Anemia. (grantsformedical.com)
  • Then always code anemia as a principal or first-listed diagnosis, followed by the appropriate code for neoplasm and then the adverse effect. (grantsformedical.com)
  • Currently ~60% of patients with congenital anaemia remain without a genetic diagnosis and part of my research utilises next generation sequencing technologies to identify novel causative variants and broaden the diagnostic range for these disorders. (ox.ac.uk)
  • The test can help your doctor diagnose certain types of acquired and congenital blood disorders. (healthline.com)
  • As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. (haematologica.org)
  • 1-6 Excluding disorders of globin synthesis, rare anaemias include Diamond-Blackfan anaemia (DBA), congenital dyserythropoietic anaemias (CDA), congenital sideroblastic anaemias (CSA), and disorders of red cell membrane and enzymes. (b-s-h.org.uk)
  • Today, Umbilical Cord Blood (UCB) stem cells are used in the treatment of over 105 ailments in Thailand, including cardiovascular disease, cancer, hereditary/genetic diseases, and blood disorders such as sickle cell anaemia. (stemcellcareindia.com)
  • the disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (icdlist.com)
  • B)Large erythroblasts with nuclear lobulation and with chromatin patterns similar to that seen in megaloblastic anemia. (mhmedical.com)
  • The most common reason for hospitalization because of acute anemia is due to the so-called aplastic crisis in children with chronic hemolytic anemia who otherwise had been stable. (medscape.com)
  • a familial disorder characterized by anemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (erythroid precursor cells). (icdlist.com)
  • This variant of congenital dyserythropoietic anemia has erythroblasts with two to seven nuclei. (mhmedical.com)
  • CDA I patients have a moderate macrocytic anemia with frequent splenomegaly and occasional hepatomegaly. (orpha.net)
  • However, because sufficient specific cell markers are scarce, dyserythropoietic diseases are challenging to identify through flow cytometry. (biomedcentral.com)
  • The clinical effects of anemia depend on its duration and severity. (medscape.com)
  • more importantly, one must consider the clinical effects or the signs and symptoms of the individual with anemia. (medscape.com)
  • When anemia is acute, the body does not have enough time to make the necessary physiologic adjustments, and the symptoms are more likely to be pronounced and dramatic. (medscape.com)
  • In contrast, when anemia develops gradually, the body is able to adjust, using all 4 mechanisms mentioned above (1, 3, and 4 in most cases), ameliorating the symptoms relative to the degree of the anemia. (medscape.com)
  • Most of the symptoms of anemia are associated with the lack of oxygen in the body. (grantsformedical.com)
  • This landmark ruling opened enormous omline bilities for the commercial growth of genetic en- gineering. (binaryoptionsforex625.com)
  • My research focuses on the genetic causes of anaemia, regulation of the alpha globin locus and haemoglobin switching. (ox.ac.uk)
  • CDA III is a very rare subtype characterized by mild hemolytic anemia and a predisposition to retinal angioid streaks, gammopathies and myeloma. (orpha.net)
  • It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. (uic.es)
  • Pediatric anemia refers to a hemoglobin or hematocrit level lower than the age-adjusted reference range for healthy children. (medscape.com)
  • Physiologically, anemia is a condition in which reduced hematocrit or hemoglobin levels lead to diminished oxygen-carrying capacity that does not optimally meet the metabolic demands of the body. (medscape.com)
  • a condition of inadequate circulating red blood cells (anemia) or insufficient hemoglobin due to premature destruction of red blood cells (erythrocytes). (icdlist.com)
  • any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. (icdlist.com)
  • anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. (icdlist.com)
  • anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. (icdlist.com)
  • anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (mcv) and increased mean corpuscular hemoglobin (mch). (icdlist.com)
  • Anemia is defined as a decrease in the amount of red blood cells or hemoglobin in the blood. (ghcgenetics.com)
  • Some authorities also consider a relative anemia to exist when a hemoglobin or hematocrit above that cutoff point is insufficient to meet tissue oxygen demand. (msdmanuals.com)
  • Оцінка анемії Anemia is a decrease in the number of red blood cells (RBCs) as measured by the red cell count, the hematocrit, or the red cell hemoglobin content. (msdmanuals.com)
  • In pediatrics beyond the immediate neonatal period, acute anemia is rare in otherwise healthy children. (medscape.com)
  • Physiologic anemia is the most common cause of anemia in the neonatal period. (msdmanuals.com)
  • However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications. (haematologica.org)
  • Hereditary spherocytosis and hereditary elliptocytosis are examples of inherited hemolytic anemias. (ghcgenetics.com)
  • Hereditary spherocytosis is the most common congenital hemolytic anemia among Caucasians with an estimated prevalence ranging from 1:2,000 to 1:5,000. (ghcgenetics.com)
  • Patients share chronic anemia of variable severity and jaundice, frequently associated with splenomegaly and/or hepatomegaly. (orpha.net)
  • Abdominal ultrasonography is used to assess for gallstones or splenomegaly in hemolytic anemia, while computed tomography (CT) scanning is used to evaluate occult bleeding in blunt trauma (eg, splenic rupture, subcapsular hemorrhage of the liver) or a bleeding disorder. (medscape.com)
  • Anemia is not a specific disease entity but is a condition caused by various underlying pathologic processes. (medscape.com)
  • Educate the patient and/or the family about the specific disease that causes the anemia. (medscape.com)
  • Certain physiologic adjustments can occur in an individual with anemia to compensate for the lack of oxygen delivery. (medscape.com)
  • Normal physiologic processes often cause normocytic-normochromic anemia at an expected time after birth in term and preterm infants. (msdmanuals.com)
  • Physiologic anemias do not generally require extensive evaluation or treatment. (msdmanuals.com)
  • See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100). (nih.gov)
  • Acute and severe anemia can result in cardiovascular compromise. (medscape.com)
  • Spectrum of severity from asymptomatic to severe anemia and skeletal changes. (bmj.com)
  • Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. (nih.gov)
  • Jaundice is intermittent and approximately 1/3 of patients have congenital malformations, mostly involving the limbs, but also the heart, kidneys or hip. (orpha.net)
  • The causes of anemia may be classified as impaired red blood cell (RBC) production or increased RBC destruction (hemolytic anemias). (ghcgenetics.com)
  • Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. (wikipedia.org)
  • Three main types of congenital dyserythropoietic anemia (CDA I-III) and four other extremely rare types have been described. (mhmedical.com)
  • a rare congenital hypoplastic anemia that usually presents early in infancy. (icdlist.com)
  • We work on another rare blood disorder congenital dyserythropoietic anemia (CDA). (kupferlab.org)