title: Investigation of molecular heterogeneity of β-thalassemia disorder in District Charsadda of Pakistan.
abstract: OBJECTIVE
  Thalassemia is blood related disease which arises from the reduced level of hemoglobin in red blood cells (RBC), a protein responsible for carrying oxygen inside the body. Considering its widespread occurrence in developing countries like Pakistan, this study aims to investigate the common molecular anomalies of the beta thalassemia disease in district Charsadda, Khyber Pakhtunkhwa.
  
  
  METHODS
  This work was done at Abdul Wali Khan University (AWKU) Mardan, Khyber Pakhtunkhwa, Pakistan. The work was performed on the blood samples collected from the patients and their families with beta thalassemia major (n = 13 families) belonged to District Charsadda. The collected blood samples were analyzed for presence of six known mutations with the help of polymerase cha in reaction technique i.e. amplification of refractory mutation system.
  
  
  RESULTS
  Our Study reports six known mutations (IVS-1-5, FSC 8/9, CD 41/42, IVS-1-1, CD 15 and FSC-5) accounting for about 90% of total beta thalassemia genes in this country. Among the reported mutations, IVS 1-5 was the most prevalent beta thalassemia gene in patients belonging to District Charsadda.
  
  
  CONCLUSIONS
  The results and findings of the current study may help in accessing the frequency of these common mutations and in initiating pre-natal diagnosis programme in Pakistan.
authors.affiliation: Dr. Muhammad Shakeel, PhD (UK). Department of Biotechnology, Bacha Khan University Charsadda, Khyber Pakhtunkhwa, Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Shakeel
authors.affiliation: Mr. Muhammad Arif, M.Phil. Department of Biotechnology, Bacha Khan University Charsadda, Khyber Pakhtunkhwa, Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Arif
authors.affiliation: Dr. Shoaib Ur Rehman, PhD (Pakistan). Department of Biotechnology, Bannu University of Science and Technology, Bannu, Khyber Pakhtunkhwa, Pakistan.
authors.forename: Shoaib Ur
authors.initials: SU
authors.lastname: Rehman
authors.affiliation: Dr. Tabassum Yaseen, PhD (Pakistan). Department of Botany, Bacha Khan University Charsadda, Khyber Pakhtunkhwa, Pakistan.
authors.forename: Tabassum
authors.initials: T
authors.lastname: Yaseen
keywords: Beta thalassemia; District Charsadda; Mutations; Pre-natal diagnosis