Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

The molecular defects causing beta thalassaemia have been analysed in 85 unrelated Burmese patients. The patients included 14 with homozygous beta thalassaemia, 70 with HbE/beta thalassaemia and one with HbS/beta thalassaemia. Using a combination of allele-specific oligoprobe hybridization and direct sequencing of genomic DNA amplified by the polymerase chain reaction, 95/99 of the beta-thalassaemia alleles have been characterized. Six mutations have been identified of which three, the G-T at IVS-1 position 1, the G-C at IVS-1 position 5 and the deletion of TCTT in codons 41/42, accounted for 85% of the alleles. Despite the diversity of ethnic groups in Burma, the number of beta-thalassaemia alleles in Burma is relatively small. Thus, diagnosis of the majority of the beta thalassaemias would be possible using a limited number of oligonucleotide probes.

Type

Journal article

Journal

Br J Haematol

Volume

81

Pages

574 - 8