Community genetics · 2004
A community profile of alpha thalassaemia in Western Australia.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Prior J F, Bittles A H, Erber W N
Аннотация
OBJECTIVE: To investigate the current prevalence of alpha-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, alpha-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 alpha-thalassaemia was performed on extracted DNA for single and double alpha-globin gene deletions and mutations by PCR.
RESULTS: An alpha-globin gene abnormality was detected in 35.4% (326/920) of samples. There were 177 cases (50.6%) with a single gene deletion alpha(+)-thalassaemia, most commonly -3.7 kb, and 102 cases (31.2%) with double alpha-gene deletions (alpha(0)-thalassaemia), including 7 cases of HbH disease.
CONCLUSION: Overall, the findings amount to 1.7 new cases of alpha-thalassaemia per 10,000 population in the 12-month period and demonstrate that alpha-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.
METHOD: Over a 1-year period commencing July 2002, alpha-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 alpha-thalassaemia was performed on extracted DNA for single and double alpha-globin gene deletions and mutations by PCR.
RESULTS: An alpha-globin gene abnormality was detected in 35.4% (326/920) of samples. There were 177 cases (50.6%) with a single gene deletion alpha(+)-thalassaemia, most commonly -3.7 kb, and 102 cases (31.2%) with double alpha-gene deletions (alpha(0)-thalassaemia), including 7 cases of HbH disease.
CONCLUSION: Overall, the findings amount to 1.7 new cases of alpha-thalassaemia per 10,000 population in the 12-month period and demonstrate that alpha-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.