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A community profile of alpha-thalassaemia in Western Australia

Prior, J.F., Bittles, A.H. and Erber, W.N. (2004) A community profile of alpha-thalassaemia in Western Australia. Community Genetics, 7 (4). pp. 211-215.

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Objective: To investigate the current prevalence of ;1-thalassaemia in the population of Western Australia, which has received substantial immigration from South-East Asia during the last 30 years. Method: Over a 1-year period commencing July 2002, ;1-thalassaemia DNA testing was performed on 920 blood samples received from the Migrant Health Service, referring doctors or pathology laboratories in Western Australia. Molecular testing for ;1-thalassaemia was performed on extracted DNA for single and double ;1-globin gene deletions and mutations by PCR. Results: An ;1-globin gene abnormality was detected in 35.4% (326/920) of samples. There were 177 cases (50.6%) with a single gene deletion ;1+-thalassaemia, most commonly 133.7 kb, and 102 cases (31.2%) with double ;1-gene deletions (;10-thalassaemia), including 7 cases of HbH disease. Conclusion: Overall, the findings amount to 1.7 new cases of ;1-thalassaemia per 10,000 population in the 12-month period and demonstrate that ;1-thalassaemia is an increasingly common disorder in the Western Australian population. This has important implications for community outreach programmes, genetic counselling and the screening of at-risk populations.

Item Type: Journal Article
Publisher: Karger
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