ETIOLOGY OF SEVERE IRON OVERLOAD IN A FAMILY WITH HEREDITARY HEMOLYTIC-ANEMIA

Severe iron overload is a reported complication of certain erythroid d isorders which are characterized by increased erythropoietic activity, Proposed mechanisms include enhancement of iron absorption secondary to increased erythroid activity and coexistent heterozygosity or homoz ygosity for haemochromatosis. We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutation in an extended family with inherited haemolytic anaemia in which several members exhibited iron overload. The results demonstrated iron overload was associated with h omozygosity but not heterozygosity for this mutation. Such an associat ion may also exist in other erythroid disorders in which iron overload has been reported.