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Genetic Diversity Of Beta-Thalassemia Mutations In Pakistani Population, B Khateeb, T Moatter, A M. Shaghil, S Haroon, G N. Kakepoto
Genetic Diversity Of Beta-Thalassemia Mutations In Pakistani Population, B Khateeb, T Moatter, A M. Shaghil, S Haroon, G N. Kakepoto
Department of Pathology and Laboratory Medicine
Background:
beta-thalassemia is one of the most common inherited single gene disorder in Pakistan. It is characterized by reduced or absent beta-globin gene expression resulting in abnormal maturation and survival of red blood cells. Due to high prevalence of this disease in the local population, it has become important for the health care providers to encourage people to utilize laboratory facilities for carrier and prenatal genetic testing.
Objective:
To study the frequency of beta-thalassemia mutations in Pakistani population.
Setting:
A tertiary care teaching hospital.
Methods:
Blood samples of 72 couples and chorionic villus (CV) biopsy specimen collected at the Aga …