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

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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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.

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关于同基因 C282Y 突变相关遗传性血色病患者的简短交流。
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。
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CiteScore
1.90
自引率
12.50%
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A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis. Comparison of the recommendation of international autoimmune hepatitis pathology group 2022 and the simplified criteria for autoimmune hepatitis 2008: A preliminary study. Comparison of triglyceride-glucose index and anthropometric obesity indices in predicting severe grades of hepatic steatosis in nonalcoholic fatty liver disease among non-diabetic obese individuals. Cross talk between genetics and biochemistry in the pathogenesis of hepatocellular carcinoma. From NAFLD to MASLD: Meta-analysis and systematic review of NAFLD patients in Turkiye in terms of metabolic profile and MASLD potential.
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