A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis
- PMID: 39006143
- PMCID: PMC11237243
- DOI: 10.14744/hf.2024.2024.0020
A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis
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.
Conflict of interest statement
The authors have no conflict of interest to declare.
References
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- Simsek H, Balaban YH, Yilmaz E, Sumer H, Buyukasik Y, Cengiz C, et al. Mutations of the HFE gene among Turkish hereditary haemochromatosis patients. Ann Hematol. 2005;84(10):646–649. - PubMed
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