Cell and Developmental Biology Commons^™

Prevalence And Distribution Of Major -Thalassemia Mutations And Hbe/-Thalassemia Variant In Nepalese Ethnic Groups, Zilfalil Bin Alwi, Raju Lama, Wardah Yusof, Tilak R. Shrestha, Sarifah Hanafi, Matrika Bhattarai, Rosline Hassan, Bin Alwi Zilfalil

Hematology/Oncology and Stem Cell Therapy

Background: Beta-thalassemia is a genetic disorder that is inherited in an autosomal recessive pattern. This genetic disease leads to a defective beta-globin hemoglobin chain causing partial or complete beta-globin chain synthesis loss. Beta-thalassemia major patients need a continuous blood transfusion and iron chelation to maintain the normal homeostasis of red blood cells (RBCs) and other systems in the body. Patients also require treatment procedures that are costly and tedious, resulting in a serious health burden for developing nations such as Nepal. Methods: A total of 61 individuals clinically diagnosed to have thalassemia were genotyped with multiplex amplification refractory mutation systemepolymerase …