A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis

Hepatol Forum. 2024 Jul 2;5(3):161-164. doi: 10.14744/hf.2024.2024.0020. eCollection 2024.

Abstract

Hereditary hemochromatosis (HH) is an autosomal recessive inherited iron-loading disorder and is characterized by chronic hepatitis, cirrhosis, diabetes, and bronze skin. The hemochromatosis gene (C282Y homozygosity)-related hemochromatosis is the most common form of HH. The prevalence of HH is varied. Here, we defined six cases with C282Y homozygosity-related HH in a single center in Turkiye.

Keywords: C282 Y homozygous mutation; HFE gene; hereditary hemochromatosis.