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Research Article

JCR. 2020; 7(17): 3618-3624


Mahjabeen, Ngoc Pham,HiraMubeen,ShujaatHussain, WaseemShoukat, Dr. AsmaNoureen,Dr.KhalidHussain Rind,ShafiUllah, M., WaseemAkram, Muhammad Tahir,Afzal Ahmad,Muhammad WaseemShoaib,SaimaJabeen, ShahidRaza.

Beta-thalassemia is amongst the most widely occurring issues around the world. Over couple of decades, extensive
advances in understanding the pathophysiology of β-thalassemia have essentially improved patient administration,
which has prompted an increase in the life expectancy of these subjects. Thalassemia major complications, include
arrhythmia, hypothyroidism, hyperparathyroidism, hypogonadism, and diabetes. Heart disease is the main source of
mortality and one of the main causes of morbidity in β-thalassemia. According to several studies , the sexual
maturation in beta-thalassemia major (BTM) girls, from ages 10-18 years, have delayed sexual maturation and
slowness in growth. Gene therapy is the latest technique in severe thalassemia management,by the isolation of
defective hematopoietic stem cells (HSC), and modifying them ex-vivo. CRISPR/Cas9, is probably going to be
progressively productive in controlling the disease because of its accuracy in genetic modification. Blood transfusion
is the curative option for the thalassemia patients andin children regular blood transfusion help in growth,
development and the reduction of extra-medullary hematopoiesis. The objective of this review was to understand the
pathophysiology and genetic basis of thalassemia and to get insight into the physiological processes associated with

Key words: Beta-thalassemia, Alpha-thalassemia, Hematopoietic stem cell, Transfusion-dependent thalassemia, Non-transfusion-dependent thalassemia

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