Nur Fatihah Mohd Yatim, Masitah Abd. Rahim, Kavitha Menom, Faisal Muti Al-Hassan, Rahimah Ahmad, Anita Bhajan Manocha, Mohamed Saleem and Badrul Hisham Yahaya (2014). Molecular Characterization of α- and β-Thalassaemia among Malay Patients. International Journal of Molecular Sciences 15(5): 8835-8845
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 βEmutation, respectively.