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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 37 Issue 5
May  2021
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Hereditary hemochromatosis caused by mutation in the SLC40A1 gene: A case report

DOI: 10.3969/j.issn.1001-5256.2021.05.041
  • Received Date: 2020-12-03
  • Accepted Date: 2020-12-16
  • Published Date: 2021-05-20
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    王彦华, 侯丽虹. 铁调素表达与调节机制的研究进展[J]. 国际输血及血液学杂志, 2019, 42(4): 358-361. DOI: 10.3760/cma.j.issn.1673-419X.2019.04.013.
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    王晓雪, 崔慧斐. 以铁调素为靶点的新药研发[J]. 中国药学杂志, 2018, 53(6): 405-410. DOI: 10.11669/cpj.2018.06.001.
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    HAN Y, ZHANG XX. Genetic diagnosis of hereditary hemochromatosis[J]. J Clin Hepatol, 2019, 35(8): 1673-1679. DOI: 10.3969/j.issn.1001-5256.2019.08.004.

    韩悦, 张欣欣. 遗传性血色病的基因诊断[J]. 临床肝胆病杂志, 2019, 35(8): 1673-1679. DOI: 10.3969/j.issn.1001-5256.2019.08.004.
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    MAYR R, JANECKE AR, SCHRANZ M, et al. Ferroportin disease: A systematic meta-analysis of clinical and molecular findings[J]. J Hepatol, 2010, 53(5): 941-949. DOI: 10.1016/j.jhep.2010.05.016.
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    ZHANG W, LV T, HUANG J, et al. Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature[J]. Medicine (Baltimore), 2017, 96(38): e8064. DOI: 10.1097/MD.0000000000008064.
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    ALTAMURA S, KESSLER R, GR?NE HJ, et al. Resistance of ferroportin to hepcidin binding causes exocrine pancreatic failure and fatal iron overload[J]. Cell Metab, 2014, 20(2): 359-367. DOI: 10.1016/j.cmet.2014.07.007.
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    CHEN SR, YANG LQ, CHONG YT, et al. Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4[J]. Intern Med J, 2015, 45(6): 672-676. DOI: 10.1111/imj.12764.
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