Sharma S K, Mangudkar Sangram, Rathod Mehul, Verma Amrita, Phanikumar R L V, Garg Subodh, Dhakne Ajinkya, Barure Ramdas
J Assoc Physicians India. 2014 Mar;62(3):264-7.
Hereditary hemochromatosis (HH) is manifested as iron overload in different organs due to homozygosity of a single autosomal mutation. Two different mutations C282Y and H63D in the HFE gene have been associated with hereditary hemochromatosis cases. This disease is seen in northern european populations, but in India it is a rare disease. We report a young male with severe abnormalty of liver functions due to Non HFE related Hereditary Hemochromatosis.
遗传性血色素沉着症（HH）表现为由于单个常染色体突变的纯合性导致不同器官的铁过载。HFE基因中的两种不同突变C282Y和H63D与遗传性血色素沉着症病例有关。这种疾病在北欧人群中较为常见，但在印度却是一种罕见疾病。我们报告了一名年轻男性，因非HFE相关的遗传性血色素沉着症导致肝功能严重异常。
