ArticleJournal of human genetics2014
Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.
Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 22 citations in OpenAlex.
- Evidence of new intragenic HBB haplotypes model for the prediction of beta-thalassemia in the Malaysian population.Scientific reports · 2021Trial
- G6PD variants but not Filipino beta-thalassemia are associated with reduced risk of Plasmodium knowlesi infection in Sabah, Malaysia.Malaria journal · 2026Article
- HBB Gene Mutations and Their Pathological Impacts on HbE/β-Thalassaemia in Kuala Terengganu, Malaysia.Diagnostics (Basel, Switzerland) · 2023Article
- Observational study on the current status of thalassaemia in Malaysia: a report from the Malaysian Thalassaemia Registry.BMJ open · 2020Observational
- Haplotype Analysis of β-Thalassaemia Major and Carriers with Filipino β°-Deletion in Sabah, Malaysia.The Malaysian journal of medical sciences : MJMS · 2018Article
- Failure to replicate the internal structure of Greek-specific thalassemia quality of life instrument in adult thalassemia patients in Sabah.Patient preference and adherence · 2016Article
- A commentary on molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.Journal of human genetics · 2014Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of β-thalassemia major patients. Accurate population frequency data of the molecular basis of β-thalassemia major are needed for planning its control in the high-risk population of Sabah. Characterization of β-globin gene defects was done in 252 transfusion dependent β-thalassemia patients incorporating few PCR techniques. The study demonstrates that β-thalassemia mutations inherited are ethnically dependent. It is important to note that 86.9% of transfusion-dependent β-thalassemia major patients in Sabah were of the indigenous population and homozygous for a single mutation. The Filipino β(0)-deletion was a unique mutation found in the indigenous population of Sabah. Mutations common in West Malaysia were found in 11 (4.3%) patients. Four rare mutations (Hb Monroe, CD 8/9, CD 123/124/125 and IVS I-2) were also found. This study is informative on the population genetics of β-thalassemia major in Sabah.
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