Molecular characterization of α- and β-thalassaemia among Malay patients

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...

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Bibliographic Details
Published in:International journal of molecular sciences 2014-05, Vol.15 (5), p.8835-8845
Main Authors: Yatim, Nur Fatihah Mohd, Rahim, Masitah Abd, Menon, Kavitha, Al-Hassan, Faisal Muti, Ahmad, Rahimah, Manocha, Anita Bhajan, Saleem, Mohamed, Yahaya, Badrul Hisham
Format: Article
Language:English
Subjects:
Alleles
alpha-Globins - genetics
alpha-Thalassemia - genetics
alpha-Thalassemia - pathology
Asian People - genetics
beta-Thalassemia - genetics
beta-Thalassemia - pathology
Genotype
Haplotypes
Heterozygote
Humans
Malay
Malaysia
Multigene Family
Penang
Polymorphism, Single Nucleotide
α-thalassaemia
β-thalassaemia
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Summary: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.
ISSN:1422-0067
1422-0067
DOI:10.3390/ijms15058835