title: Molecular characterization of α- and β-thalassaemia among Malay patients.
abstract: Both α- and β-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the α- and β-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 α-thalassaemia determinants and 20 β-thalassaemia mutations in 28 and 40 unrelated Malays, respectively. Four α-thalassaemia deletions and mutations were demonstrated. --SEA deletion and αCSα accounted for more than 70% of the α-thalassaemia alleles. Out of the 20 β-thalassaemia alleles studied, nine different β-thalassaemia mutations were identified of which βE accounted for more than 40%. We concluded that the highest prevalence of (α- and β-thalassaemia alleles in the Malays from Penang are --SEA deletion and βE mutation, respectively.
authors.affiliation: Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Penang 13200, Malaysia. teaha_101@yahoo.com.my.
authors.forename: Nur Fatihah Mohd
authors.initials: NF
authors.lastname: Yatim
authors.affiliation: Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Penang 13200, Malaysia. masitahrahim@yahoo.com.
authors.forename: Masitah Abd
authors.initials: MA
authors.lastname: Rahim
authors.affiliation: Healthy Lifestyle Cluster, Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia, Kepala Batas, Penang 13200, Malaysia. kavitha@amdi.usm.edu.my.
authors.forename: Kavitha
authors.initials: K
authors.lastname: Menon
authors.affiliation: Allianze University College of Medical Sciences (AUCMS), Waziria Medical Square, Jalan Bertam 2, Mukim 6, Kepala Batas, Penang 13200, Malaysia. alhassanfaisal@ymail.com.
authors.forename: Faisal Muti
authors.initials: FM
authors.lastname: Al-Hassan
authors.affiliation: Haematology Unit, Cancer Research Centre, Institute for Medical Research, Jalan Pahang, Kuala Lumpur 50588, Malaysia. rahimah@imr.gov.my.
authors.forename: Rahimah
authors.initials: R
authors.lastname: Ahmad
authors.affiliation: Department of Medicine, Hospital Seberang Jaya Jalan Tun Hussein Onn, Seberang Prai 13700, Malaysia. amanocha@ppg.moh.gov.my.
authors.forename: Anita Bhajan
authors.initials: AB
authors.lastname: Manocha
authors.affiliation: Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Penang 13200, Malaysia. mohamedsaleem@amdi.usm.edu.my.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Saleem
authors.affiliation: Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Penang 13200, Malaysia. badrul@amdi.usm.edu.my.
authors.forename: Badrul Hisham
authors.initials: BH
authors.lastname: Yahaya
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008296:Malaysia; D005810:Multigene Family; D020641:Polymorphism, Single Nucleotide; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D055542:alpha-Globins