ArticleInternational journal of hematology2014
Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family.
Article in International journal of hematology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.Orphanet journal of rare diseases · 2019Pooled it
- [Analysis of clinical, gene mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis in the Chinese population].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Article
- Novel compound heterozygous mutations in theWorld journal of clinical cases · 2024Article
- Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.Orphanet journal of rare diseases · 2022Article
- Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.Genes · 2021Article
- Ethnic Differences in Iron Status.Advances in nutrition (Bethesda, Md.) · 2021Review
- Clinicopathological diagnosis and treatment of juvenile hemochromatosis.Chinese medical journal · 2019Article
- The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.International journal of hematology · 2018Review
- [A case of hereditary hemochromatosis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2017Article
- Iron overload patients with unknown etiology from national survey in Japan.International journal of hematology · 2017Article
- Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.Journal of clinical and experimental hepatologyArticle
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Authors and funding
7 authors at 3 institutions in 1 country.
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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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