SynthesisOrphanet journal of rare diseases2019
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Synthesis in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Dermatologic manifestations of hereditary hemochromatosis: A systematic review.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Pooled it
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- [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
- Article
- Novel compound heterozygous mutations in theWorld journal of clinical cases · 2024Article
- Lycopene: A Potent Antioxidant with Multiple Health Benefits.Journal of nutrition and metabolism · 2024Review
- Juvenile Hemochromatosis in an Asymptomatic Patient-Importance of Early Diagnosis.JPGN reports · 2022Article
- Juvenile Hemochromatosis due to a Homozygous Variant in theCase reports in pediatrics · 2022Article
- Ethnic Differences in Iron Status.Advances in nutrition (Bethesda, Md.) · 2021Review
- The Role of Iron in Benign and Malignant Hematopoiesis.Antioxidants & redox signaling · 2021Review
- Ironing out mechanisms of iron homeostasis and disorders of iron deficiency.The Journal of clinical investigation · 2021Review
- Combined heart-liver transplantation in a case of haemochromatosis.BMJ case reports · 2021Article
- Hepcidin Signaling in Health and Disease: Ironing Out the Details.Hepatology communications · 2021Review
- Inherited iron overload disorders.Translational gastroenterology and hepatology · 2020Review
- Regulation of Iron Homeostasis and Related Diseases.Mediators of inflammation · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal skin pigmentation, cardiomyopathy, hypogonadism, and diabetes. Hemojuvelin (HJV) is the causative gene of a rare subtype of HH worldwide. This study aims to systematically review the genotypic and phenotypic spectra of HJV-HH in multiple ethnicities, and to explore the genotype-phenotype correlations. A comprehensive search of PubMed database was conducted. Data were extracted from 57 peer-reviewed original articles including 132 cases with HJV-HH of multiple ethnicities, involving 117 biallelic cases and 15 heterozygotes. Among the biallelic cases, male and female probands of Caucasian ancestry were equally affected, whereas males were more often affected among East Asians (P=1.72×10
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