GuidelineEuropean journal of human genetics : EJHG2016
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).
Guideline in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- Hemochromatosis and Hepatic Complications: A Comprehensive Review of Molecular Mechanisms, Diagnostics, and Emerging Therapeutics.Current molecular medicine · 2026Review
- Review
- A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis.Hepatology forum · 2024Article
- Case report: A rare case of hereditary hemochromatosis caused by a mutation in the HAMP gene in Fuyang, China.Frontiers in medicine · 2024Article
- Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.Journal of assisted reproduction and genetics · 2023Article
- Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.European journal of human genetics : EJHG · 2023Article
- Non-invasive measurement of liver iron concentration by magnetic resonance imaging and its clinical usefulness.Archives of medical science : AMS · 2023Article
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- Article
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- Iron triggers the early stages of cartilage degenerationOsteoarthritis and cartilage open · 2021Article
- Hyperferritinemia-A Clinical Overview.Journal of clinical medicine · 2021Review
- What's Important and New in Hemochromatosis?Clinical hematology international · 2020Review
- Multiparametric MR mapping in clinical decision-making for diffuse liver disease.Abdominal radiology (New York) · 2020Review
- HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case.Frontiers in genetics · 2020Article
- A Simple RFLP-Based Method forBioMed research international · 2020Article
- Inherited iron overload disorders.Translational gastroenterology and hepatology · 2020Review
- Quantification of liver iron overload disease with laser ablation inductively coupled plasma mass spectrometry.BMC medical imaging · 2018Article
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9 authors.
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Abstract
Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk. The vast majority (typically >90%) of patients with clinically characterized HH are homozygous for the p.C282Y variant in the HFE gene, referred to as HFE-related HH. Since 1996, HFE genotyping was implemented in diagnostic algorithms for suspected HH, allowing its early diagnosis and prevention. However, the penetrance of disease in p.C282Y homozygotes is incomplete. Hence, homozygosity for p.C282Y is not sufficient to diagnose HH. Neither is p.C282Y homozygosity required for diagnosis as other rare forms of HH exist, generally referred to as non-HFE-related HH. These pose significant challenges when defining criteria for referral, testing protocols, interpretation of test results and reporting practices. We present best practice guidelines for the molecular genetic diagnosis of HH where recommendations are classified, as far as possible, according to the level and strength of evidence. For clarification, the guidelines' recommendations are preceded by a detailed description of the methodology and results obtained with a series of actions taken in order to achieve a wide expert consensus, namely: (i) a survey on the current practices followed by laboratories offering molecular diagnosis of HH; (ii) a systematic literature search focused on some identified controversial topics; (iii) an expert Best Practice Workshop convened to achieve consensus on the practical recommendations included in the guidelines.
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