Congenital dyserythropoietic anemia type II

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

Abnormal glycosylation

An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.


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PMID (PMCID)
14501626
 MIXED_SAMPLE Adult
Congenital dyserythropoietic anaemia type II (HEMPAS) and haemochromatosis: a report of two cases.
Kremer Hovinga JA, Solenthaler M, Dufour JF.
Eur J Gastroenterol Hepatol. 2003;15(10):1141-7.
Abnormal glycosylation of proteins involved in iron homeostasis is likely to contribute to the massive hepatic iron accumulation characteristic for CDA type II.