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Beta thalassemia in Pakistan is a serious health concern
with an estimated 5-8% carrier frequency and birth of 5000
major children every year in the country. The treatment of
beta thalassemia major patients poses a great economic
burden; hence, the ideal approach towards this disease
should encompass effective prevention services. At
present only one government funded project "Punjab
Thalassemia Prevention Programme" existed in Punjab
province, and providing free of cost services for beta
thalassemia screening and prenatal diagnosis. Complete
blood count and haemoglobin electrophoresis remains
the preliminary test for screening, while chorionic villi
sampling and amplification refractory mutation system
method have been most widely used for molecular
diagnosis of beta thalassemia. Modern molecular
techniques, non-invasive prenatal diagnosis, and preimplantation diagnosis are in trial phases. In this review we
have discussed the available diagnostic facilities and
status of prevention programmes for beta thalassemia in
Pakistan as well as future perspectives.
Mahmood Ghafoor, Furqan Sabir, Muhammad Farooq Sabar. (2021) Prevention programmes and prenatal diagnosis for beta thalassemia in Pakistan: A narrative review , Journal of the Pakistan Medical Association, Volume 71, Issue 1.
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