Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants | Haematologica

摘要

Background Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE mutations can be found in trans on chromosome 6.