Prenatal Diagnosis of Beta-Thalassemia by Mutation Analysis : Prenatal Screening of Thalassemia in Pakistan

Beta-thalassemia is the most common genetic disorder in Pakistan with a carrier frequency of 5.6%. The homozygous affected children require frequent blood transfusion and iron-chelating therapies for their survival. The treatment is unaffordable for the majority of Pakistani patients. Most of these patients die due to several complications, mainly because of heart attack. This inherited disease can only be prevented through carrier screening, genetic counseling and prenatal diagnosis. The complete mutation spectrum of Beta-thalassemia in Pakistan is also identified. This makes the preventive method more straightforward and efficient.