Xmn1 Polymorphism: A Silver Lining for β-Thalassemia Patients
Xmn1 Polymorphism: A Silver Lining for β-Thalassemia Patients
Saba Irshad*, Aruba Muhammad, Ammara Muazzam, Farah Sarfraz Anmol and Rehman Shahzad
ABSTRACT
This research was intended to screen β-Thalassemia Major patients for Xmn1 Polymorphism, accountable for increased Fetal Hemoglobin, an important ameliorating factor in minimizing disease severity. PCR-RFLP was employed for securitizing Xmn1 polymorphism among thalassemia (Major) patients. Out of total 206 screened patients, sole Xmn1 homozygous (+/+) and heterozygous (-/+) case was reported with a band size of 418 bp, 230 bp and 641 bp, 418 bp, 230 bp respectively. Xmn1 restriction site was present at 158 bp upstream of the Gamma globin gene on chromosome 11 of positive patients (GenBank KY927385). Fetal hemoglobin level in Xmn1 (-/+) and (+/+) was 59.1% and 19% respectively which minimize their transfusion frequency to 30 days in comparison to 7-15 days in Xmn1 -/- patients. Hematological analysis of thalassemic patients revealed low Hb, WBCs and platelets counts in contrast to control. The reported polymorphism was meant to be lowering the frequency of blood transfusions and to some extent responsible for diminishing the disease burden among ‘Thalassemia Major’ patients.
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February 2019
Vol. 51, Iss. 1, Pages 1-398
