Congenital dyserythropoietic anaemia type II (HEMPAS) and haemochromatosis: a report of two cases.
We describe two patients with severe iron overload in the context of congenital dyserythropoietic anaemia (CDA) type II, which is characterized by a protein glycosylation defect with impairment of N-glycan synthesis. In both patients a corpuscular, haemolytic anaemia had been diagnosed in early childhood and both patients underwent splenectomy before the age of 9 years. They developed clinical manifestations of haemochromatosis and only re-evaluation during adulthood led to the correct diagnosis. Abnormal glycosylation of proteins involved in iron homeostasis is likely to contribute to the massive hepatic iron accumulation characteristic for CDA type II. Both patients required chelation therapy. This report points out the need to consider CDA in patients presenting with haemochromatosis and anaemia.
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006432:Hemochromatosis / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged