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

被引：0

作者：

Gokcan, Hale ^{[1
]}

Oz, Didem Kuru ^{[2
]}

Bodakci, Emin ^{[1
]}

Tunc, Esra ^{[3
]}

Idilman, Ramazan ^{[1
,3
]}

机构：

[1] Ankara Univ, Sch Med, Dept Gastroenterol, Ankara, Turkiye

[2] Ankara Univ, Sch Med, Dept Radiol, Ankara, Turkiye

[3] Ankara Univ, Sch Med, Inst Hepatol, Ankara, Turkiye

来源：

HEPATOLOGY FORUM | 2024年 / 5卷 / 03期

关键词：

C282 Y homozygous mutation; hereditary hemochromatosis; HFE gene; ASSOCIATION; DIAGNOSIS;

D O I：

10.14744/hf.2024.2024.0020

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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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页码：161 / 164

页数：4

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