Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.

Journal: Journal of clinical and experimental hepatology
Published Date: Apr 29, 2019

Abstract

BACKGROUND: Primary hemochromatosis is unusual in India. The homeostatic iron regulator (HFE) gene C282Y mutation, a common cause for hemochromatosis in Europe, is considered almost nonexistent in India. We are reporting a case of hemochromatosis with the HFE gene C282Y mutation and two other adult cases with a novel hemojuvelin (HJV) mutation from Kerala.

Authors

  • Abraham Koshy
    Departments of Gastroenterology, VPS Lakeshore Hospital, Kochi, India.
  • Roy J Mukkada
    Departments of Gastroenterology, VPS Lakeshore Hospital, Kochi, India.
  • Antony P Chettupuzha
    Departments of Gastroenterology, VPS Lakeshore Hospital, Kochi, India.
  • Jose V Francis
    Departments of Gastroenterology, VPS Lakeshore Hospital, Kochi, India.
  • Julio C Kandathil
    Radiology, VPS Lakeshore Hospital, Kochi, India.
  • Pushpa Mahadevan
    Pathology, VPS Lakeshore Hospital, Kochi, India.

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