RESUMEN
Both α- and ß-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the α- and ß-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 ß-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 ß-thalassaemia alleles studied, nine different ß-thalassaemia mutations were identified of which ßE accounted for more than 40%. We concluded that the highest prevalence of (α- and ß-thalassaemia alleles in the Malays from Penang are --SEA deletion and ßE mutation, respectively.