The Prevalence of Mediterranean Mutation of Glucose-6-Phosphate Dehydrogenase (G6PD) in Zahedan

authors:

avatar Alireza Nakhaee (Biochemistry) 1 , * , avatar Saeedeh Salimi 1 , avatar Azita Zadehvakili 2 , avatar Soroush Dabiri 3 , avatar Mehrangiz Noora 4 , avatar Mahnaz Rezaei 5 , avatar Ebrahim Miri-Moghaddam 6

Department of Clinical Biochemistry, Research Center of Cellular and Molecular Biology, Zahedan University of Medical Sciences, Zahedan.
Obesity Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Laboratory Sciences, Faculty of Paramedical Sciences, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Laboratory Sciences, Zahedan University of Medical Sciences, Zahedan, Iran
Department of Laboratory Sciences, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Genetics, Zahedan University of Medical Sciences, School of Medicine, Zahedan, Iran.
Zahedan Journal of Research in Medical Sciences: Vol.14, issue 3; e93563
published online: June 27, 2011
article type: Research Article
received: January 17, 2011
accepted: May 25, 2011

how to cite: Nakhaee (Biochemistry) A , Salimi S , Zadehvakili A, Dabiri S, Noora M, et al. The Prevalence of Mediterranean Mutation of Glucose-6-Phosphate Dehydrogenase (G6PD) in Zahedan. Zahedan J Res Med Sci. 2012;14(3):e93563. 

Abstract

Background:  glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common genetic defects in the world, so that more than 400 million people in worldwide are affected with it, but its prevalence varies from 1-65% in different populations. Clinical manifestation of this defect is acute hemolytic anemia, neonatal hyperbilirubinemia and chronic nonspherocytic haemolytic anaemia. So far, almost 140 mutations have been identified in the gene of G6PD enzyme. Mediterranean is the most common mutation. The purpose of this study is to determine the prevalence of G6PD Mediterranean mutation in the deficient people in the city of Zahedan.
Materials and Methods: In this descriptive cross-sectional study, blood samples of 1440 male individuals, who were referred to Zahedan Reference Laboratory for premarital testing, were examined for G6PD deficiency using fluorescent spot test. Genomic DNA from blood of people with G6PD deficiency was extracted by DNA extraction kit. Mediterranean mutation was identified using PCR-RFLP method.
Results: 101 out of 1440 subjects had G6PD deficiency. Therefore prevalence of G6PD deficiency in Zahedan city was estimated about 7%. Mediterranean mutation frequency in patients with defect of G6PD was estimated 84.2% (85 out of 101 patients) and 15.8% (16 out of 101 patients) did not have mutation Mediterranean. The frequency of G6PD deficiency was expressed as a percentage of total cases and Mediterranean mutation prevalence was expressed as a percentage of total impaired individuals.
Conclusion: The result of this study showed that the frequency of G6PD deficiency in Zahedan city is lower than other cities of sistan and baluchestan province. Dominant mutation in present study was Mediterranean type and its frequency was very similar with prevalence of this mutation in other parts of Iran.

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References

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