H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.

Abstract

BACKGROUND AND OBJECTIVES Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism. The HFE gene implicated in this disorder has been identified on chromosome 6 (6p21.3). The most prevalent mutation in HH patients changes the 282 cysteine residue to tyrosine (C282Y). The role of a second mutation which changes the 63 histidine… (More)

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@article{Melis2002H63DMI, title={H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.}, author={Maria Antonietta Melis and Milena Cau and Federica Deidda and Susanna Barella and A. 26 Chirico G. 4 Ciepielewskaja Cao and Renzo Galanello}, journal={Haematologica}, year={2002}, volume={87 3}, pages={242-5} }