Prevalence of Haemoglobinopathies in young adults from Screening Camps in Karachi: The importance of using Simple Thalassemia Screen Tool for carrier detection in a resource-constrained region

Pakistan has a high prevalence of Beta Thalassemia with 5-8% 1 of the population with thalassemia minors, thus there are about 9.8 million carriers 1. It is estimated that approximately 5000 children are born with thalassemia major, each year. Pakistan’s total burden of Thalassemia major affected children may be over 50,000 1. The expected actual figure is much higher due to unregistered thalassemics living in rural areas. This genetic condition requires frequent blood transfusions throughout the life span requiring regular iron chelation therapy. The huge financial burden on family, society and blood banks is inevitable. The only curative approach is Bone Marrow Transplant which is not affordable in a developing country resulting in suboptimal treatment in most of the cases. Ironically there is lack of national screening program for thalassemia in Pakistan. Simple screening tools 2 to identify problem cases which can later be tested by diagnostic methods is the solution for a developing country with financial limitations. It is important to exclude coexisting iron deficiency anemia by serum iron profile determination as nutritional deficiency states suppresses Hb A2 levels 3. Moreover, presence of silent mutations in our population, though rare, requires PCR testing in all cases with suspicion of thalassemia trait if Hb electrophoresis does not reveal raised HbA2 levels, a prerequisite for diagnosis of thalassemia trait.

Author(s): Maliha S

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