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

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.

Methods

Of 434 cases with chronic liver disease, 3 cases were identified with the serum ferritin level of more than 1000 ng/mL and primary hemochromatosis after excluding secondary causes. Whole exome sequencing, including genes HFE, HJV, SLC40A1, TFR2, FTH1, HAMP, SKIV2L, TTC37, and BMP2, was performed for blood samples in all 3 cases.

Results

One patient with hemochromatosis had a homozygous HFE gene C282Y mutation

SUBMITTER: Koshy A 

PROVIDER: S-EPMC7067988 | biostudies-literature | 2020 Mar-Apr

REPOSITORIES: biostudies-literature