ReviewBlood research2019
Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology.
Review in Blood research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 45 citations in OpenAlex.
- 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
- Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease.BMC genomics · 2024Article
- The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay.Balkan journal of medical genetics : BJMG · 2024Article
- Global Trends on β-Thalassemia Research Over 10 Years: A Bibliometric Analysis.International journal of general medicine · 2024Article
- Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.BMC medical genomics · 2023Article
- Discovery of a biomarker for β-Thalassemia by HPLC-MS and improvement from Proton Transfer Reaction - Parallel Ion Parking.Journal of mass spectrometry and advances in the clinical lab · 2023Article
- Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia.Blood research · 2022Review
- Understanding microbeads stacking in deformable Nano-Sieve for Efficient plasma separation and blood cell retrieval.Journal of colloid and interface science · 2022Article
- Prenatal Screening and Diagnosis of ß-Thalassemia in India: Is ARMS-PCR Enough?Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2021Article
- Molecular basis and diagnosis of thalassemia.Blood research · 2021Review
- Genotypic and Clinical Analysis of a Thalassemia Major Cohort: An Observational Study.Advances in experimental medicine and biology · 2021Observational
- Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997-2016: a Nationwide Retrospective Cohort Study.Journal of Korean medical science · 2020Article
Corrections and comments
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Authors and funding
8 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence of thalassemia and hemoglobinopathy is increased in Korea with rapid influx of people from endemic areas. Thus, the awareness of the disease is needed. α-thalassemias are caused by deletions in α-globin gene, while β-thalassemias are associated with decreased synthesis of β-globin due to β-globin gene mutations. Hemoglobinopathies involve structural defects in hemoglobin due to altered amino acid sequence in the α- or β-globin chains. When the patient is suspected with thalassemia/hemoglobinopathy from abnormal complete blood count findings and/or family history, the next step is detecting hemoglobin abnormality using electrophoresis methods including high performance liquid chromatography and mass spectrometry. The development of novel molecular genetic technologies, such as massively parallel sequencing, facilitates a more precise molecular diagnosis of thalassemia/hemoglobinopathy. Moreover, prenatal diagnosis using genetic testing enables the prevention of thalassemia birth and pregnancy complications. We aimed to review the spectrum and classification of thalassemia/hemoglobinopathy diseases and the diagnostic strategies including screening tests, molecular genetic tests, and prenatal diagnosis.
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