title: Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.
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.
authors.affiliation: Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
authors.forename: Lai Kuan
authors.initials: LK
authors.lastname: Teh
authors.affiliation: Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: George
authors.affiliation: Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
authors.forename: Mei I
authors.initials: MI
authors.lastname: Lai
authors.affiliation: Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Jin Ai Mary Anne
authors.initials: JA
authors.lastname: Tan
authors.affiliation: Department of Medicine, Hospital Queen Elizabeth, Kota Kinabalu, Malaysia.
authors.forename: Lily
authors.initials: L
authors.lastname: Wong
authors.affiliation: Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
authors.forename: Patimah
authors.initials: P
authors.lastname: Ismail
mesh_terms: D001803:Blood Transfusion; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008296:Malaysia; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics* / Q000628:therapy*
chemical_list: D055544:beta-Globins