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.
引用
收藏
页码:161 / 164
页数:4
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