Molecular Diagnosis of the First Ferroportin Mutation (C326Y) in the Far East Causing a Dominant Form of Inherited Iron Overload.

Viprakasit, Vip; Merryweather-Clarke, Alison T.; Chinthammitr, Yingyong; Schimanski, Lisa; Drakesmith, Hal; Srichairatanakool, Somdet; Limwongse, Chanin; Townsend, Alain; Robson, Kathryn J.H.

doi:10.1182/blood.v104.11.3204.3204

Molecular Diagnosis of the First Ferroportin Mutation (C326Y) in the Far East Causing a Dominant Form of Inherited Iron Overload.

Genetic hemochromatosis (HH) is a common inherited disorder in populations of European origin in which different types of genetic hemochromatosis (type 1–4) have been characterized. Most hemochromatosis-type 1 patients are homozygotes or compound heterozygotes for two HFE mutations C282Y and H63D…