ArticleAmerican journal of human genetics1997
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 320 citations in OpenAlex.
- Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver.Hepatology international · 2023Guideline
- EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).European journal of human genetics : EJHG · 2016Guideline
- Iron metabolism in infections: Focus on COVID-19.Seminars in hematology · 2021Review
- The clinical management of hereditary haemochromatosis.Frontline gastroenterology · 2018Review
- HFE polymorphisms affect survival of brain tumor patients.Journal of neuro-oncology · 2015Article
- Survey of Hfe Gene C282Y Mutation in Turkish Beta-Thalassemia Patients and Healthy Population: A Preliminary Study.Turkish journal of haematology : official journal of Turkish Society of Haematology · 2014Article
- Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.Medical science monitor : international medical journal of experimental and clinical research · 2012Article
- Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis.Medical science monitor : international medical journal of experimental and clinical research · 2011Article
- Prevalence of 845G>A HFE mutation in Slavic populations: an east-west linear gradient in South Slavs.Croatian medical journal · 2011Article
- Factors influencing disease phenotype and penetrance in HFE haemochromatosis.Human genetics · 2010Review
- Intracellular iron transport and storage: from molecular mechanisms to health implications.Antioxidants & redox signaling · 2008Review
- Screening in liver disease.World journal of gastroenterology · 2006Review
- Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.BMC medical genetics · 2006Article
- Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload.Sao Paulo medical journal = Revista paulista de medicina · 2006Article
- Screening for hemochromatosis in Turkey.Digestive diseases and sciences · 2004Article
- Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.Proceedings of the National Academy of Sciences of the United States of America · 2003Article
- [Illness due to iron deposit in a 38-year old man].Atencion primaria · 2003Article
- Diagnosis of juvenile hemochromatosis in an 11-year-old child combining genetic analysis and non-invasive liver iron quantitation.European journal of pediatrics · 2003Article
- HFE gene mutations an Apulian population: allele frequencies.European journal of epidemiology · 2003Article
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11 authors at 1 institution in 1 country.
Funding
Abstract
Hemochromatosis (HH) is an inborn error of iron metabolism, frequent among Caucasians, characterized by progressive iron loading that, if untreated, causes high morbidity and death. HLA-H, a putative HH gene, has recently been isolated. The large majority of patients so far studied are homozygous for a single mutation, which results in a cysteine-to-tyrosine substitution at amino acid 282 of the protein. A second, less frequent, variant, His63Asp, has an undefined role in the pathogenesis of the disease. Here we report that the Cys282Tyr change accounts for 69% of HH chromosomes in a series of 75 unrelated Italian patients who fulfilled well-defined criteria for HH diagnosis. Sixty-four percent of patients were Cys282Tyr homozygous, 10% were heterozygous, and 21% carried the normal allele. The same mutation was rare in normal controls. The His63Asp variant was less frequent but had a similar frequency among affected and normal chromosomes. Subjects without two copies of the Cys282Tyr change were both isolated patients and individuals from families with a 6p-linked disease. Mutation analysis of the HLA-H gene, carried out by RNA-SSCP in the latter patients, did not reveal any significant nucleotide abnormality in coding sequences and intron-exon boundaries. The absence of mutations in HLA-H gene was confirmed in three cases by direct sequencing. Major deletions or rearrangements of the gene were excluded by Southern blotting. The existence of patients with clinical and histological features of HH, but without mutations in HLA-H gene, suggests that in Italy the disease is more heterogeneous than reported in northern Europe.
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9106528PMC1712480W1562221129What OpenQuestion holds
Registered trials
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