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

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

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

Hale Gokcan et al. Hepatol Forum. .

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.

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Conflict of interest statement

The authors have no conflict of interest to declare.

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References

    1. Liu Yin J, Cussen C, Harrington C, Foskett P, Raja K, Ala A. Guideline Review: European Association for the Study of Liver (EASL) Clinical Practice Guidelines on Haemochromatosis. J Clin Exp Hepatol. 2023;13(4):649–655. - PMC - PubMed
    1. Atkins JL, Pilling LC, Masoli JAH, Kuo CL, Shearman JD, Adams PC, et al. Association of hemochromatosis HFE p. C282Y homozygosity with hepatic malignancy. 2020 JAMA;324(20):2048–2057. - PMC - PubMed
    1. Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, et al. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) Eur J Hum Genet. 2016;24(4):479–495. - PMC - PubMed
    1. Crawford DHG, Ramm GA, Bridle KR, Nicoll AJ, Delatycki MB, Olynyk JK. Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver. Hepatol Int. 2023;17(3):522–541. - PMC - PubMed
    1. 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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