ArticleDiagnostics (Basel, Switzerland)2023
HBB Gene Mutations and Their Pathological Impacts on HbE/β-Thalassaemia in Kuala Terengganu, Malaysia.
Article in Diagnostics (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 6 citations in OpenAlex.
- Genetic polymorphism of SNPs rs9399137 and rs4895441in HBS1L-MYB and SNP rs766432 in BCL11A among β-thalassemia Egyptian patients.BMC genomic data · 2026Article
- Clinical and Genetic Pattern of β-Thalassemia Major in East Java, Indonesia.Journal of blood medicine · 2026Article
- Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.Molecular biology reports · 2024Article
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10 authors at 5 institutions in 3 countries.
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Abstract
backgroundβ-thalassaemia is a disorder caused by mutations in the β-globin gene, leading to defective production of haemoglobins (Hb) and red blood cells (RBCs). It is characterised by anaemia, ineffective erythropoiesis, and iron overload. Patients with severe β-thalassaemia require lifelong blood transfusions. Haemoglobin E beta-thalassaemia (HbE/β-thalassaemia) is a severe form of β-thalassaemia in Asian countries. More than 200 alleles have been recognised in the β-globin region. Different geographical regions show different frequencies of allelic characteristics. In this study, the spectrum of β-thalassaemia (β-thal) alleles and their correlation with iron overload, in HbE/β-thalassaemia patients, β-thalassaemia trait, and HbE trait were studied.
methodsBlood samples (
resultsThere was severe anaemia present in HbE/β-thalassaemia patients compared to their parents and healthy controls. The ferritin and iron levels were significantly increased in patients compared to their parents and healthy controls (
conclusionSome mutations were associated with severe anaemia in β-thalassaemia patients. The detection of mutations is a prognostic marker, and could enhance the appropriate management protocols and improve the haematological and biochemical statuses of β-thalassaemia patients.
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