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

Jonas Denecke , Thorsten Marquardt

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 hypoglcosylation 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.

Mots clés: Hempas; CDA II; congenital disorders of glycosylation; dyserythropoiesis; erythrocyte membrane glycosylation; CDAN2

Jonas Denecke, Thorsten Marquardt. Congenital dyserythropoietic anemia type II (CDAII / HEMPAS): Where are we now?. Biochimica et Biophysica Acta - Molecular Basis of Disease, 2009, 1792 (9), pp.915. ⟨10.1016/j.bbadis.2008.12.005⟩. ⟨hal-00517927⟩