International Journal of Medical and Health Research

Authors
Shahid Raza, Sahrish Farooqi, Hira Mubeen, Muhammad Waseem Shoaib, Saima Jabeen

Abstract
Thalassemia is an autosomal recessive common genetic disorder throughout the world. Various mutations in globin genes are major cause of thalassemia and require collective measures including carrier identification, genetic counseling and prenatal diagnosis for preventing β-thalassemia. All patients were diagnosed at 18 years of age or less. Patients with homozygous beta-thalassemia was clinically classified into severe transfusion dependent thalassemia major and mild based on criteria such as age at presentation, average hemoglobin level at the steady state and the most important transfusion frequency history. Different methods can be used to detect mutations in disease causing gene. For this, all of the beta-thalassemia alleles can be characterized by a combination of techniques including M-ARMS, direct DNA sequencing, and gap-PCR for 3.4 kb deletion detection. Hence, it is suggested to have proper screening for β-Thalassemia trait in families of Thalassemia major patients. This will help to overcome beta-globin gene mutations among patients and in next generations as well.