Molecular Characterization of β-Thalassemia Mutations for Ten Patients in Al-Muthanna Governorate
Abstract
ABSTRACTBackground: There are currently more than 200 known mutations in the β globin gene that cause thalassemia syndrome in the world and each ethnic population has its own unique and frequency of β globin gene mutations. Delineation of the β-thalassemia mutations in specific community is a prerequisite for implementation of preventive program in that community.
Objective: To characterize the spectrum of β globin gene mutations in thalassemic patients in Al-Muthanna governorate.
Methods: Ten thalassemic patients were included; they were transfusion dependent and they were diagnosed and registered in thalassemia center in Al-Muthanna governorate. After DNA extraction from venous blood and PCR based DNA amplification, the allele's characterization was achieved by reverse hybridization to specific oligonucleotide probe designed to detect 22 β-thalassemic mutations.
Results: Seven alleles causing β-thalassemia in Al-Muthanna governorate were identified, and these alleles with their frequencies were: IVS 2.1 (G>A)20.0%, IVS 1.6 (T>C)20.0%, cod 5(-CT)20.0%, cod 39 (C>T)15.0%, IVS 1.110 (G>A) 5%, and cod44(-C)5.0%; five percent of alleles still undetermined. In 7/9 (77.8%) of the families, there were consanguineous relation between the parents. Five (56%) Families have more than one affected sibling.
Conclusion: The majority of the thalassemic mutations in Al-Muthanna governorate were of Mediterranean type and few were of Kurdish and Asian Indian.
Keywords: Thalassemia, β globin gene mutations, Al-Muthanna governorate, Oligonucleotide, Reverse hybridization.
Iraqi Medical Journal Vol. 56, No.1, June 2010; p.1-6
Copyright (c) 2017 Iraqi Medical Journal
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