Hemochromatosis gene (HFE) mutations in South East Asia: A potential for iron overload

• Main Authors: Jennifer J. Pointon, Vip Viprakasit, Katie L. Miles, Karen J. Livesey, Michael Steiner, Sean O'Riordan, Tran T. Hien, Alison T. Merryweather-Clarke, Kathryn J.H. Robson
• Other Authors: Weatherall Institute of Molecular Medicine
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/20789
• Institution: Mahidol University

Hereditary hemochromatosis (HH) is an autosomal recessive disease caused by mutations in the HFE gene that mainly affects populations of European descent. Recently a novel mutation (IVS5+1 G→A) has been described in a Vietnamese patient with HH that was not detected in a European control population....