Title: A Rare Case of Primary Haemochromatosis in India
Authors: M. J. Vinod Kumar, Indu K. Nair, Spurgeon Rachaprolu
DOI: https://dx.doi.org/10.18535/jmscr/v8i10.06
Abstract
Haemochromatosis is a genetic disease associated with progressive systemic iron overload causing multi system injury. This has been widely reported among the people of Northern European origin with the common mutations being C282Y and H63D. However, this is rare and under reported in the Asian subcontinent. We report a reformed alcoholic patient with worsening liver disease having Haemochromatosis, negative for common mutations despite abstinence
Keywords: Alcohol; Haemochromatosis; Liver disease.
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