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Int. J. Mol. Sci. 2014, 15(5), 8835-8845; doi:10.3390/ijms15058835

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

1
Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Penang 13200, Malaysia
2
Healthy Lifestyle Cluster, Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia, Kepala Batas, Penang 13200, Malaysia
3
Allianze University College of Medical Sciences (AUCMS), Waziria Medical Square, Jalan Bertam 2, Mukim 6, Kepala Batas, Penang 13200, Malaysia
4
Haematology Unit, Cancer Research Centre, Institute for Medical Research, Jalan Pahang, Kuala Lumpur 50588, Malaysia
5
Department of Medicine, Hospital Seberang Jaya Jalan Tun Hussein Onn, Seberang Prai 13700, Malaysia
*
Author to whom correspondence should be addressed.
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)
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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. View Full-Text
Keywords: α-thalassaemia; β-thalassaemia; Malay; Penang α-thalassaemia; β-thalassaemia; Malay; Penang
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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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