ArticleEuropean journal of human genetics : EJHG2015
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.
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34 citing papers in PubMed, 108 citations in OpenAlex.
- Performance Evaluation of the Sysmex 'RBC Defect Workflow Optimisation' Flag for the Detection of Haemoglobinopathies and Iron Deficiency Anaemia.International journal of laboratory hematology · 2026Article
- Addressing Obstetric and Gynecologic Needs in Thalassemia.O&G open · 2026Article
- Thalassaemia.Nature reviews. Disease primers · 2026Review
- EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies.HemaSphere · 2026Article
- Mapping diagnostic practices in hemoglobinopathies: a cross-country HELIOS COST Action study.Blood advances · 2026Article
- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection.Frontiers in genetics · 2026Review
- Longstanding Microcytosis with a Thalassaemia-Like Phenotype and Inconclusive Molecular Testing: A Case Report.Journal of blood medicine · 2026Article
- Beyond transfusions and transplants: genomic innovations rewriting the narrative of thalassemia.Annals of hematology · 2025Review
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Biatrial and Biventricular Reference Ranges Based on Cardiac Magnetic Resonance in Sickle Cell Disease Patients Without Heart Damage.Diagnostics (Basel, Switzerland) · 2024Article
- The Application of Clinical and Molecular Diagnostic Techniques to Identify a Rare Haemoglobin Variant.International journal of molecular sciences · 2024Review
- A rare hemoglobinopathy duo: Hb Adana×Hb SEA in a 1-year-old patient - a case report and a brief literature review.Annals of medicine and surgery (2012) · 2024Article
- Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis.Journal of community genetics · 2023Review
- IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies.HemaSphere · 2023Article
- A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports.Cureus · 2023Article
- Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.Diagnostics (Basel, Switzerland) · 2023Article
- Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/β+-thalassemia traits in an immigrant Afghan family.Journal of clinical pathology · 2022Article
- First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE).Journal of clinical medicine · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially 'atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis.
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