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Published on: August 8, 2022
Genetics of Hereditary Hemochromatosis
Mariam Alamgir1, Aalam Sohal2, Kris V Kowdley3
1Liver Institute Northwest, Seattle, WA, USA.
Abstract:
Hereditary hemochromatosis (HH) is a genetic disorder characterized by excessive iron absorption, leading to tissue and organ damage, particularly in the liver, pancreas, and joints, and resulting in conditions such as arthritis, diabetes, and cirrhosis. Initially attributed to HFE gene mutations and classified into 4 types, HH is now understood to involve multiple genetic variants. In 2022, the BIOIRON society reclassified HH into HFE-related, non-HFE-related, digenic, and molecularly undefined forms, and separated ferroportin disease as a distinct entity. This article reviews the genetic basis of HH, emphasizing genotype-phenotype correlations and clinical expression across different mutations.
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