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

Gokcan, Hale; Kuru Oz, Didem; Bodakci, Emin; Tunc, Esra; Idilman, Ramazan

doi:10.14744/hf.2024.2024.0020

Hale Gokcan¹ ,

Didem Kuru Oz² ,

Emin Bodakci³ ,

Esra Tunc³ ,

Ramazan Idilman¹

¹Department of Gastroenterology, Ankara University School of Medicine, Ankara, Turkiye
²Department of Radiology, Ankara University School of Medicine, Ankara, Turkiye
³Institute of Hepatology, Ankara University School of Medicine, Ankara, Turkiye

Hepatology Forum 2024; 5(3): 161-164 DOI: 10.14744/hf.2024.2024.0020 PMCID: PMC11237243

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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 preva-lence 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; hereditary hemochromatosis; HFE gene.