ArticleMedeniyet medical journal2021
Molecular Detection of Alpha Thalassemia: A Review of Prevalent Techniques.
Article in Medeniyet medical journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 21 citations in OpenAlex.
- Article
- Application of targeted sequencing in the molecular diagnosis of thalassemia in Southern China.Scientific reports · 2026Article
- Third-generation sequencing technology in the prevention and control of thalassemia: Applications and advances.The Journal of international medical research · 2026Review
- Isothermal nucleic acid amplification techniques: A comprehensive overview on their principle & applications as alternative to PCR.Practical laboratory medicine · 2026Review
- Genotype-phenotype correlation in alpha-thalassemia: predicting genetic subgroups via laboratory parameters.Frontiers in medicine · 2026Article
- Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis.Frontiers in genetics · 2025Article
- A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China.Practical laboratory medicine · 2024Article
- Article
- Global Globin Network and adopting genomic variant database requirements for thalassemia.Database : the journal of biological databases and curation · 2024Article
- Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.Obstetric medicine · 2024Article
- Uncommon Combination of Hemoglobin Jax and Hemoglobin Constant Spring Leading to Microcytic Anemia.The American journal of case reports · 2024Article
- Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2024Article
- An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping.Haematologica · 2024Article
- Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.Diagnostics (Basel, Switzerland) · 2023Article
- Impact of age-dependent red blood cell parameters on α-globin gene genotyping in children.EJHaem · 2023Article
- The need to perform α-thalassemia genetic testing in Italian patients with β-thalassemia trait: A case report.Clinical case reports · 2022Article
- Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review.Frontiers in pediatrics · 2022Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha thalassemia (α-thalassemia) is an autosomal recessive disorder due to the reduction or absence of α globin chain production. Laboratory diagnosis of α-thalassemia requires molecular analysis for the confirmatory diagnosis. A screening test, comprising complete blood count, blood smear and hemoglobin quantification by high performance liquid chromatography and capillary electrophoresis, may not possibly detect all the thalassemia diseases. This review focused on the molecular techniques used to detect α-thalassemia, and the advantages and disadvantages of each technique were highlighted. Multiplex gap-polymerase chain reaction, single-tube multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification, and loop-mediated isothermal amplification were used to detect common deletion of α-thalassemia. Furthermore, the reverse dot blot analysis and a single tube multiplex polymerase chain reaction could detect non-deletion mutation of the α-globin gene. Sanger sequencing is widely used to detect non-deletion mutations of α-thalassemia. Recently, next-generation sequencing was introduced in the diagnosis of both deletion and point mutations of α-thalassemia. Despite the advantages and disadvantages of different techniques, the routine method employed in the laboratory should be based on the facility, expertise, available equipment, and economic conditions.
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