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Open AccessArticle

Molecular Characterization of α- and β-Thalassaemia among Malay Patients

Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Penang 13200, Malaysia
Healthy Lifestyle Cluster, Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia, Kepala Batas, Penang 13200, Malaysia
Allianze University College of Medical Sciences (AUCMS), Waziria Medical Square, Jalan Bertam 2, Mukim 6, Kepala Batas, Penang 13200, Malaysia
Haematology Unit, Cancer Research Centre, Institute for Medical Research, Jalan Pahang, Kuala Lumpur 50588, Malaysia
Department of Medicine, Hospital Seberang Jaya Jalan Tun Hussein Onn, Seberang Prai 13700, Malaysia
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2014, 15(5), 8835-8845;
Received: 11 February 2014 / Revised: 6 March 2014 / Accepted: 13 March 2014 / Published: 19 May 2014
(This article belongs to the Collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
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. View Full-Text
Keywords: α-thalassaemia; β-thalassaemia; Malay; Penang α-thalassaemia; β-thalassaemia; Malay; Penang
MDPI and ACS Style

Yatim, N.F.M.; Rahim, M.A.; Menon, K.; Al-Hassan, F.M.; Ahmad, R.; Manocha, A.B.; Saleem, M.; Yahaya, B.H. Molecular Characterization of α- and β-Thalassaemia among Malay Patients. Int. J. Mol. Sci. 2014, 15, 8835-8845.

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