congenital dyserythropoietic anemia

con·gen·i·tal dys·e·ryth·ro·poi·et·ic a·ne·mi·a

a group of anemias characterized by ineffective erythropoiesis, bone marrow erythroblastic multinuclearity, and secondary hemochromatosis. Three types are described: type I [MIM224120], macrocytic, megaloblastic anemia with erythroblastic internuclear chromatin bridges; type II, [MIM*224100], normoblastic anemia with multinucleated erythroblasts; type III, macrocytic anemia with erythroblastic multinuclearity and gigantoblasts [MIM*105600]. Both types I and II are autosomal recessively inherited, type III is of autosomal dominant inheritance.

congenital dyserythropoietic anemia

Pediatric Hematology A group of inherited defects of erythropoiesis Clinical Lifelong mild-to-moderate anemia and ineffective erythropoiesis
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In congenital iron-loading anemias, such as [beta]-thalassemia (major and intermedia) and congenital dyserythropoietic anemia I and II, but also in acquired forms such as myelodys-plastic syndrome types RA (refractory anemia) and RARS (RA with ringed sideroblasts), the diseased erythron dysregulates iron homeostasis by inhibiting hepcidin synthesis, even in the presence of iron overload (134-140).
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.
Patients with congenital dyserythropoietic anemia type II and concurrent Gilbert's syndrome have increased bilirubin levels with a higher incidence of gallstones.
Similar dysplastic changes in the erythroid series can be seen in the bone marrow of individuals with congenital dyserythropoietic anemia.
Nine of their 24 patients with low holo-TC (38%) had normal cobalamin status, as determined with the sensitive deoxyuridine suppression test; the diagnoses in the 9 included myelodysplasia, congenital dyserythropoietic anemia, and alcohol abuse.
Hereditary erythroblastic multinuclearity with a positive acidified serum test (HEMPAS) (41), also called congenital dyserythropoietic anemia type II (42, 43), is a rare autosomal recessive disorder caused by membrane abnormality, with >300 known patients, and is a multifactorial disease.
Congenital dyserythropoietic anemia type II patients suffer from a long-life anemia, hepatosplenomegaly, liver hemosiderosis, and cirrhosis.
Studies on linkage analysis and allele segregation showed that there was no linkage between congenital dyserythropoietic anemia type II phenotype and the chromosomal regions containing the candidate genes that code for GlcNAc transferase II and a-mannosidase II.
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II).
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