The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells

Haematologica (Impact Factor: 5.87). 06/2010; 95(6):1034-6. DOI: 10.3324/haematol.2009.014563
Source: PubMed
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    ABSTRACT: The congenital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morphological abnormalities of marrow erythroblasts. The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1, 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 cytokinesis, while the cellular role of the proteins encoded by CDAN1 and SEC23B is still unknown. CDA variants with mutations in erythroid transcription factors genes (KLF1, GATA-1) have been recently identified. Molecular diagnosis of CDA is now possible in most patients.
    Blood 08/2013; 122(13). DOI:10.1182/blood-2013-05-468223 · 9.78 Impact Factor
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    ABSTRACT: Congenital Dyserythropoietic Anemia II (CDA II) is a rare hyporegenerative anemia of variable degree, whose causative gene is SEC23B. More than 60 causative mutations in 142 independent pedigrees have been described so far. However, the prevalence of the CDA II is probably underestimated, since its clinical spectrum was not yet well-defined and thus it is often misdiagnosed with more frequent clinically-related anemias.This study represents the first meta-analysis on clinical and molecular spectrum of CDA II from the largest cohort of cases ever described.We characterized 41 new cases and 18 mutations not yet associated to CDA II, thus expanding the global series to 205 cases (172 unrelated) and the total number of causative variants to 84. The 68.3% of patients are included in our International Registry of CDA II (Napoli, Italy).A genotype-phenotype correlation in three genotypic groups of patients was assessed. To quantify the degree of severity in each patient, a method based on ranking score was performed. We introduced a clinical index to easily discriminate patients with a well-compensated hemolytic anemia from those with ineffective erythropoiesis. Finally, the worldwide geographical distribution of SEC23B alleles highlighted the presence of multiple founder effects in different areas of the world.
    American Journal of Hematology 10/2014; 89(10). DOI:10.1002/ajh.23800 · 3.48 Impact Factor
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    ABSTRACT: The congenital dyserythropoietic anemias (CDAs) comprise a group of rare hereditary disorders of erythropoiesis that is characterized by ineffective erythropoiesis as the predominant cause of anemia and by distinct morphologic abnormalities of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type I (CDA I) is an autosomal recessive disorder with ineffective erythropoiesis and iron overloading. More than 100 cases have been described, but with the exception of a report on a large Bedouin tribe, these reports include only small numbers of cases. 1,2 CDA-I is uncommonly reported from Indian subcontinent hence we are discussing a case of CDA I. Our case also highlights the fact that diagnosis of CDAI can be made with high reliability by careful examination of bone marrow aspirate.
    Indian Journal of Hematology and Blood Transfusion 03/2014; 30(1). DOI:10.1007/s12288-012-0187-2 · 0.23 Impact Factor


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