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Beta thalassaemia in the indigenous British population
Author(s) -
Hall G. W.,
Barnetson R. A.,
Thein S. L.
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.tb06471.x
Subject(s) - indigenous , beta thalassaemia , beta thalassemia , population , medicine , beta (programming language) , genetics , biology , thalassemia , environmental health , computer science , ecology , programming language
Summary. We have analysed the molecular basis of β‐thalassaemia in 22 Anglo‐Saxon individuals, all of whom were heterozygous for β‐thalassaemia except for one, who was a compound heterozygote. Using a combination of allele‐specific priming of the polymerase chain reaction (PCR) and direct sequencing of genomic DNA amplied by the PCR, 20/ 23 β‐thalassaemic genes were characterized. Nine different mutations were identified; four are commonly found in the Mediterranean, one in Asia, one has been described previously in both Europe and Asia, and three are rare mutations associated with a dominant β‐thalassaemia phenotype. In three individuals the mutation remains uncharacterized despite sequence analysis of the β 2 ‐globin gene and its immediate flanking regions. We report our findings and discuss the diversity of these mutations.