关于同基因 C282Y 突变相关遗传性血色病患者的简短交流。

IF 1.2 Q4 GASTROENTEROLOGY & HEPATOLOGY
Hepatology Forum Pub Date : 2024-07-02 eCollection Date: 2024-01-01 DOI:10.14744/hf.2024.2024.0020
Hale Gokcan, Didem Kuru Oz, Emin Bodakci, Esra Tunc, Ramazan Idilman
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引用次数: 0

摘要

遗传性血色病(HH)是一种常染色体隐性遗传的铁负荷疾病,以慢性肝炎、肝硬化、糖尿病和古铜色皮肤为特征。与血色沉着病基因(C282Y 基因同源性)相关的血色沉着病是最常见的血色沉着病。血色沉着病的发病率各不相同。在这里,我们在土耳其的一个中心确定了六例与 C282Y 基因同源性相关的 HH 病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis.

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.

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CiteScore
1.90
自引率
12.50%
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