Li Shufeng, Xue Jun, Chen Baojun, Wang Qiwei, Shi Minke, Xie Xiaojing, Zhang Liang
Key Laboratory of Developmental Genes and Human Disease in Ministry of Education, Department of Biochemistry and Molecular Biology, Medical School of Southeast University, Nanjing, 210009, China,
Int J Hematol. 2014 Apr;99(4):487-92. doi: 10.1007/s12185-014-1547-5. Epub 2014 Mar 2.
Hereditary hemochromatosis is a disorder characterized by enhanced intestinal absorption of dietary iron. Here, we report a heterozygous genotype at two mutation sites in hemojuvelin (HJV) present in two brothers with middle-age-onset hemochromatosis in a Chinese family. To date, only homozygous or compound heterozygous states of HJV gene have been reported as associated with iron overload. However, the patients here were heterozygous for two mutations in one HJV allele in cis: a premature termination mutation (962G>A and 963C>A; C321X) and a mutation in the signal peptide (18G>C; Q6H). Previously unrecognized environmental or other genetic factors may have interacted with the heterozygous genotype in these patients.
遗传性血色素沉着症是一种以肠道对膳食铁吸收增强为特征的疾病。在此，我们报告了一个中国家庭中两名患有中年起病血色素沉着症的兄弟，其血色素沉着蛋白（HJV）的两个突变位点存在杂合基因型。迄今为止，仅报道过HJV基因的纯合或复合杂合状态与铁过载相关。然而，此处的患者在一个HJV等位基因中存在两个顺式突变的杂合状态：一个过早终止突变（962G>A和963C>A；C321X）和一个信号肽突变（18G>C；Q6H）。以前未被认识的环境或其他遗传因素可能在这些患者中与杂合基因型相互作用。
