Molecular Characterization of alpha- and beta-Thalassaemia among Malay Patients

作者：Yatim Nur Fatihah Mohd; Abd Rahim Masitah; Menon Kavitha; Al Hassan Faisal Muti; Ahmad Rahimah; Manocha Anita Bhajan; Saleem Mohamed; Yahaya Badrul Hisham^*

来源：International Journal of Molecular Sciences, 2014, 15(5): 8835-8845.

DOI：10.3390/ijms15058835

• alpha-thalassaemia
• beta-thalassaemia
• Malay
• Penang

Both alpha-and beta-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the alpha-and beta-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 alpha-thalassaemia determinants and 20 beta-thalassaemia mutations in 28 and 40 unrelated Malays, respectively. Four a-thalassaemia deletions and mutations were demonstrated. --(SEA) deletion and alpha(CS)alpha accounted for more than 70% of the alpha-thalassaemia alleles. Out of the 20 beta-thalassaemia alleles studied, nine different beta-thalassaemia mutations were identified of which beta(E) accounted for more than 40%. We concluded that the highest prevalence of (alpha-and beta-thalassaemia alleles in the Malays from Penang are --(SEA) deletion and beta(E) mutation, respectively.

• 出版日期2014-5
• 单位河北医科大学