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Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family

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Abstract

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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Acknowledgments

This work was supported by grant from the Chinese National Nature Science Foundation (31070706) and by the Fund from Nanjing Health Bureau (ykk10082). We thank Dr. Sheng Zhao for his valuable comments on the manuscript.

Conflict of interest

None of the authors has conflict of interest with regard to the manuscript submitted.

Author information

Authors and Affiliations

  1. 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

    Shufeng Li, Qiwei Wang & Liang Zhang

  2. Department of Hematology, Nanjing First Hospital, Nanjing Medical University, Nanjing, 210006, China

    Jun Xue

  3. Department of Thoracic and Cardiovascular Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China

    Baojun Chen & Minke Shi

  4. Department of Endocrine, Nanjing First Hospital, Nanjing Medical University, Nanjing, 210006, China

    Xiaojing Xie

Authors
  1. Shufeng Li
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  2. Jun Xue
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  3. Baojun Chen
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  4. Qiwei Wang
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  5. Minke Shi
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  6. Xiaojing Xie
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  7. Liang Zhang
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Corresponding author

Correspondence to Shufeng Li.

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S. Li, J. Xue, B. Chen, Q. Wang, M. Shi authors contributed equally to this work.

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Li, S., Xue, J., Chen, B. et al. Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family. Int J Hematol 99, 487–492 (2014). https://doi.org/10.1007/s12185-014-1547-5

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  • DOI: https://doi.org/10.1007/s12185-014-1547-5

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