期刊
INTERNATIONAL JOURNAL OF HEMATOLOGY
卷 99, 期 4, 页码 487-492出版社
SPRINGER JAPAN KK
DOI: 10.1007/s12185-014-1547-5
关键词
Hemochromatosis; HJV mutation; Iron overload; Phenotype
类别
资金
- Chinese National Nature Science Foundation [31070706]
- Nanjing Health Bureau [ykk10082]
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.
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