Acta Scientific Cancer Biology (ASCB) (ISSN: 2582-4473)

Research Article Volume 5 Issue 12

Mutational Screening and Prenatal Diagnosis of β-thalassemia in Pakistani Families

Sana Fiaz1, Maimoona Kousar1, Muhammad Waqar Mazhar2*, Saira Saif 2and Wajeeha Iram2

1Centre of Agricultural Biochemistry and Biotechnology, University of Agriculture Faisalabad
2Department of Bioinformatics and Biotechnology, Government College University,38000 Faisalabad

*Corresponding Author: Muhammad Waqar Mazhar, Department of Bioinformatics and Biotechnology, Government Collage University, Pakistan. E-mail:

Received: July 09, 2021; Published: November 10, 2021


Beta-thalassemia is one of the most common autosomal recessive disorders worldwide. Prevention by carrier screening and prenatal diagnosis is needed in populations with high prevalence of the disease. Keeping this in mind, this study was aimed at analyzing βthalassemia disorder which is inherited in an autosomal recessive fashion through mutant alleles from parents to their children. Blood and fetal samples of two families were collected at MINAR hospital and sent to NIBGE. DNA was extracted from blood and CVS by phenol-chloroform method and quantified using Nanodrop. Then DNA was amplified by ARMS-PCR followed by horizontal gel-electrophoresis. Results showed the presence of two most prevalent beta-thalassemia mutations IVS 1-5 and FSC 8-9 in Pakistani families. Family A segregating β-thalassemia was found to have IVS 1-5 mutation and parents were carrier for this mutation. Fetal sample of Family A was homozygous of the parental mutation. FSC 8-9 was the mutation found in blood samples of Family B. Parents and fetus both were carriers of this mutation. Genetic testing and prenatal diagnosis can reduce the frequency of β-thalassemia disorders in Pakistan.

Keywords: Beta-thalassemia; ARMS-PCR; Human Genome Project; Mutations IVS 1-5 and FSC 8-9


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Citation: Muhammad Waqar Mazhar., et al. “Mutational Screening and Prenatal Diagnosis of β-thalassemia in Pakistani Families 5.12 (2021): 05-10.


Copyright: © 2021 Muhammad Waqar Mazhar., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Acceptance rate35%
Acceptance to publication20-30 days
Impact Factor1.183

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