Article
Prevalence and Distribution of Major β-Thalassemia Mutations and HbE/β-Thalassemia Variant in Nepalese Ethnic Groups.
Hematology/oncology and stem cell therapy - 1 Mar 2022
Lama Raju, Yusof Wardah, Shrestha Tilak R, Hanafi Sarifah, Bhattarai Matrika, Hassan Rosline, Zilfalil Bin Alwi
Abstract excerpt
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....
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