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

携带纯合C282Y突变的遗传性血色素沉着症患者的简要通讯

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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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