Congenital dyserythropoietic anemias: molecular insights and diagnostic approach
نویسندگان
چکیده
منابع مشابه
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach.
The congenital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morphologic abnormalities of marrow erythroblasts. The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23). KIF23 encodes mitotic kinesin-like protein 1, which plays a critical role in c...
متن کاملBlood Spotlight Congenital dyserythropoietic anemias: molecular insights and diagnostic approach
The congenital dyserythropoietic anemias (CDAs) are a group of rare hereditary disorders characterized by congenital anemia, ineffective erythropoiesis with distinct morphologic features in bone marrow (BM) late erythroblasts, and the development of secondary hemochromatosis. Patients usually present with anemia, jaundice, splenomegaly, and suboptimal reticulocyte response for the degree of ane...
متن کاملCongenital dyserythropoietic anemias.
PURPOSE OF REVIEW Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Characteristic morphological aberrations were the cornerstone of diagnosis, but following the identification of several causative genes, the molecular approach could represent a ra...
متن کاملFrequency of congenital dyserythropoietic anemias in Europe.
Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and striking abnormalities of erythroblast morphology. The mutated genes are known for the most frequent types, CDA I and II, but data about their frequency do not exist. The objective of this retrospective study was to estimate the frequency of CDA I and II, based on all cases ...
متن کاملCongenital dyserythropoietic anemias: III's a charm.
CDAs have puzzled hematologists for years. Bone marrow red blood cell precursors from affected patients are dysmorphic with multiple nuclei and fail to develop effectively into mature red blood cells. Although several CDA genes have been identified, how their altered function leads to erythroblast multinuclearity is obscure. In this issue of Blood, Liljeholm et al show that CDA III, a rare auto...
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ژورنال
عنوان ژورنال: Blood
سال: 2013
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2013-05-468223