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

International Journal of Molecular Sciences

Nur Fatihah Mohd Yatim¹  Masitah Abd. Rahim¹  Kavitha Menon⁵  Faisal Muti Al-Hassan³  Rahimah Ahmad²  Anita Bhajan Manocha⁴  Mohamed Saleem¹ 

[1] Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Penang 13200, Malaysia; E-Mails:;Haematology Unit, Cancer Research Centre, Institute for Medical Research, Jalan Pahang, Kuala Lumpur 50588, Malaysia; E-Mail:;Allianze University College of Medical Sciences (AUCMS), Waziria Medical Square, Jalan Bertam 2, Mukim 6, Kepala Batas, Penang 13200, Malaysia; E-Mail:;Department of Medicine, Hospital Seberang Jaya Jalan Tun Hussein Onn, Seberang Prai 13700, Malaysia; E-Mail:;Healthy Lifestyle Cluster, Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia, Kepala Batas, Penang 13200, Malaysia; E-Mail:

关键词: α-thalassaemia;    β-thalassaemia;    Malay;    Penang;   

DOI  :  10.3390/ijms15058835

来源: mdpi

【 摘 要 】

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 α^CSα 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 β^E 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 β^E mutation, respectively.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland