Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants

Hereditary hemochromatosis (HH) caused by a homozygous p.C282Y mutation in hemochromatosis (HFE) gene has been well-documented in Caucasian patients with HH. However, the morbidity of HH is less reported in Asian countries. Little is known about the general patterns of mutation of HH-related gene in Chinese patients. The present study by Lv et al. provided the first report of mutation pattern of hemochromatosis-related genes featured by non-HFE mutations for HH in China, which are essential for the understanding of the role of non-HFE mutations in the development of HH, and may provide one of the genetic basis for the diagnosis of HH in China. (By Prof. Jian Huang, https://jmg.bmj.com/content/early/2018/08/30/jmedgenet-2018-105348 )

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