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The spectrum of β thalassaemia in Burma
Author(s) -
Brown Jennifer M.,
Thein Swee Lay,
Weatherall David J.,
Mar Khin Mar
Publication year - 1992
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1992.tb02994.x
Subject(s) - allele , genetics , thalassemia , polymerase chain reaction , hemoglobinopathy , biology , oligonucleotide , gene , hemolytic anemia , immunology
The molecular defects causing β thalassaemia have been analysed in 85 unrelated Burmese patients. The patients included 14 with homozygous β thalassaemia, 70 with HbE/β thalassaemia and one with HbS/β 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 β‐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 β‐thalassaemia alleles in Burma is relatively small. Thus, diagnosis of the majority of the β thalassaemias would be possible using a limited number of oligonucleotide probes.