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      Multiplex amplification refractory mutation system (MARMS) for the detection of β-globin gene mutations among the transfusion-dependent β-thalassemia Malay patients in Kelantan, Northeast of Peninsular Malaysia.

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          The aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95%) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.83%) beta thalassemia alleles. Most of the patients (54.2%) were compound heterozygous with co-inheritance Cd 26 (G>A). The frequencies of spectrum beta chain mutation among these patients are presented in Table 2. Among the transfusion dependent beta thalassemia Malay patients studied, 26 patients were found to be compound heterozygous and the main alleles were Cd 26 (G>A). Compound heterozygous mutation of Cd 26 (G>A) and IVS 1-5 (G>C) were 12 (46.2%), Cd 26 (G>A) and Cd 41/42 (TTCT) were 9 (34.6%), Cd 26 (G>A) and IVS 1-1 (G>C) were 2 (7.7%) respectively. Meanwhile the minority were made of a single compound heterozygous of Cd 26 (G>A) and Cd 71/72, Cd 26 (>A) and Cd 17 (A>T), Cd 26 (G>A) and -28 (G>A) respectively. Twenty out of forty six patients were shown to have homozygous of IVS 1-5 (G>C) were 2 (10.0%), Cd 26 (G>A) were 15 (75.0%), Cd 19 (A>G) were 1 (5.0%), and IVS 1-1 (G>T) were 2 (10.0%). The beta chain mutations among the Kelantanese Malays followed closely the distribution of beta chain mutations among the Thais and the Malays of the Southern Thailand. The G-C transition at position 5 of the IVS 1-5 mutation was predominant among the Malay patients. In conclusion, this method has successfully identified the mutation spectrum in our cohort of transfusion-dependent beta thalassemia patients, and this method is equally effective in screening for mutation among thalassemia patients.

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          Author and article information

          Am J Blood Res
          American journal of blood research
          : 4
          : 1
          [1 ] Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia Malaysia.
          [2 ] Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia Malaysia.
          [3 ] Hematology Unit, Cancer Research Centre, Institute for Medical Research Kuala Lumpur.
          [4 ] Department of Community Medicine, School of Medical Sciences, Universiti Sains Malaysia Malaysia.
          [5 ] Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia Malaysia.
          [6 ] Department of Ophthalmology, Universiti Sains Malaysia Malaysia.
          [7 ] School of Dental, Universiti Sains Malaysia Malaysia.
          [8 ] Regenerative Medicine Cluster, Advanced Medical & Dental Institute, Universiti Sains Malaysia Malaysia.
          [9 ] School of Biosciences and Biotechnology, Faculty of Science and Technology, Universiti Kebangsaan Malaysia Malaysia.
          [10 ] Department of Pediatrics, Hospital Raja Perempuan Zainab II Kota Bharu Kelantan, Malaysia.
          [11 ] Department of Medical, Hospital Kuala Krai Kelantan, Malaysia.

          β-globin gene,MARMS-PCR,Malay,mutation,thalassemia
          β-globin gene, MARMS-PCR, Malay, mutation, thalassemia


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