title: Aetiology of severe iron overload in a family with hereditary haemolytic anaemia.
abstract: Severe iron overload is a reported complication of certain erythroid disorders which are characterized by increased erythropoietic activity. Proposed mechanisms include enhancement of iron absorption secondary to increased erythroid activity and coexistent heterozygosity or homozygosity 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 homozygosity but not heterozygosity for this mutation. Such an association may also exist in other erythroid disorders in which iron overload has been reported.
authors.affiliation: Department of Haematology, St Vincent's Hospital, Fitzroy, Victoria, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Dykes
authors.forename: V
authors.initials: V
authors.lastname: Gürtler
authors.forename: F
authors.initials: F
authors.lastname: Firkin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D019190:Iron Overload / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction