Article
Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.
Blood cells, molecules & diseases - 1 Nov 2018
Dhillon Barjinderjit Kaur, Chopra Gunjan, Jamwal Manu, Chandak Giri Raj, Duseja Ajay, Malhotra Pankaj, Chawla Yogesh Kumar, Garewal Gurjeewan, Das Reena
Abstract excerpt
Hereditary hemochromatosis (HH) is a rare disorder in Indians and is not associated with the common mutation Cys282Tyr in HFE gene found in Caucasians. Non-HFE HH can be associated with mutations in HJV, HAMP, TFR2 and SLC40A1 genes. Nineteen unrelated north Indian HH patients were detected after screening 258 chronic liver disease patients on the basis of increased transferrin saturation, ferritin levels...
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