Abstract
Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described. However, there have been only a few detailed reports of HH in Chinese populations. Thus, there is insufficient patient information for population-based analyses in Chinese populations or comparative studies among different ethical groups. In the current work, we describe eight Chinese cases of hereditary hemochromatosis. Gene sequencing results revealed eight mutations (five novel mutations) in HFE, HFE2, TfR2, and SLC40A1 genes in these Chinese HH patients. In addition, we used Polymorphism Phenotyping v2 (Polyphen), Sorting Intolerant From Tolerant (SIFT), and a sequence alignment program to predict the molecular consequences of missense mutations.
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Acknowledgements
This research was supported by the National Distinguished Youth Scholar Grant of China (31325010, Grant No.).
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Y. Wang, Y. Du, and G. Liu contributed equally to this work.
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12185_2016_2150_MOESM1_ESM.doc
Table S1 Primer pairs used for the amplification of the human HFE, HFE2, HAMP, TfR2, and SLC40A1 genes. Fig. S1 Conservation analysis of the HFE, HFE2, TfR2, and SLC40A1 missense mutations among several mammalian species. The amino-acid sequences of HFE, HFE2, TfR2, and SLC40A1in these mammalian species are referenced from National Center for Biotechnology Information (NCBI) database (https://www.ncbi.nlm.nih.gov/). Fig. S2 HFE, HFE2, TfR2, and SLC40A1 mutations in Chinese HH patients. del, deletion. (DOC 1908 kb)
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Wang, Y., Du, Y., Liu, G. et al. Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis. Int J Hematol 105, 521–525 (2017). https://doi.org/10.1007/s12185-016-2150-8
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DOI: https://doi.org/10.1007/s12185-016-2150-8