Congenital dyserythropoietic anemias

Abstract

The congenital dyserythropoietic anemias (CDAs) are a group of relatively rare inherited anemias that share in common ineffective erythropoiesis and morphologic abnormalities of mature red blood cells and their precursors. Three major types of CDA and a number of variants have been described. The diagnosis and categorization of these disorders are facilitated by microscopic examination of the blood and bone marrow and by serologic testing. Management of patients currently consists of observation and supportive care. Because patients with CDAs may be at significant risk for secondary hemochromatosis, they require monitoring for this condition. Spienectomy may be of benefit in certain cases In which the anemia is particularly severe. Over the past few years advances have been made in understanding the pathogenesis of these disorders, and it now appears that CDA II results from enzymatic defects in the cellular glycosylation pathway. o 1-6 Wiley-Liss, Inc.

Congenital Dyserythropoietic Anemia: An Etiopathological Study

“…A diagnosis of CDA is considered only after exclusion of these. (3) There are reports of dysmorphic features, patches of brown skin pigmentation, syndactyly and abnormality of nails and ribs in patients with CDA type I. (7) .…”

“…(1,2) Very few cases have been diagnosed worldwide. (3) They are familial disorders characterized by association of refractory anemia and ineffective erythropoiesis with multinuclearity and karyorrhexis. (3) Three types of CDA designated type I, II and III have been identified on the basis of morphologic and serological characteristics.…”

“…(3) They are familial disorders characterized by association of refractory anemia and ineffective erythropoiesis with multinuclearity and karyorrhexis. (3) Three types of CDA designated type I, II and III have been identified on the basis of morphologic and serological characteristics. Morphologic hallmarks of erythroblasts are per se specific, but may also be observed as single abnormalities in other disorders of erythropoiesis.…”

Congenital dyserythropoietic anemia type II — a case report of two siblings in a family

“…The congenital dyserythropoietic anemias (CDA) are a group of genetic disorders characterized by ineffective erythropoiesis and dyserythropoiesis [1].…”

Suppression of CDA II expression in a homozygote

“…Congenital dyserythropoietic anaemia, type II (CDA II) was ®rst recognized in the late 1960s (Wendt & Heimpel, 1967;Heimpel & Wendt, 1968;Crookston et al, 1969), and has been extensively documented (for review see Fukuda, 1993;Marks & Mitus, 1996;Iolascon et al, 1996;Wickramasinghe, 1998). The clinical presentation usually includes mild and intermittent jaundice, enlarged spleen and cholelithiasis, low reticulocyte count, infrequent transfusion needs, late onset of haemochromatosis, and frequent positivity of the Ham test.…”