Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

Congenital diserythropoietic anemias (CDA) were classified according to bone marrow changes and biochemical features 40 years ago. A consistent finding in CDA type II, the most frequent subgroup of CDAs is a relevant hypoglycosylation of erythrocyte membrane proteins. It is a matter of debate if the hypoglycosylation is the primary cause of the disorder or a phenomenon secondary to other pathomechanisms. The molecular cause of the disorder is still unknown although some enzyme deficiencies have been proposed to cause CDA II in the last 2 decades and a linkage analysis locating the CDA II gene in a 5 cM region on chromosome 20 was done in 1997. In this review biochemical and genetic data are discussed and diagnostic methods based on biochemical observations of the recent years are reviewed.