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Article

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

International journal of hematology - 1 Apr 2014

Li Shufeng, Xue Jun, Chen Baojun, Wang Qiwei, Shi Minke, Xie Xiaojing, Zhang Liang

Abstract excerpt

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...

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Identifiers

PMID: 24584909
DOI: 10.1007/s12185-014-1547-5

Genes

HJV

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family.PMID 24584909Read ↗

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