A community profile of alpha thalassaemia in Western Australia.
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.


METHODS
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.


CONCLUSIONS
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.
Prior
J F
JF
Haematology, Western Australian Centre for Pathology and Medical Research, Perth, Australia.
Bittles
A H
AH
Erber
W N
WN
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D015995:Prevalence; D014904:Western Australia / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000235:genetics*