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Aetiology of severe iron overload in a family with hereditary haemolytic anaemia
Author(s) -
Dykes Anne,
GÜrtler Volker,
Firkin Frank
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.00918.x
Subject(s) - hemochromatosis , loss of heterozygosity , compound heterozygosity , etiology , mutation , iron deficiency , medicine , hereditary hemochromatosis , heterozygote advantage , ineffective erythropoiesis , genetics , immunology , biology , anemia , erythropoiesis , allele , gene
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.