Prevalence of β-thalassemia mutations among northeastern Iranian population and their impacts on hematological indices and application of prenatal diagnosis, a seven-years study

Jaripour, M. E. and Hayatigolkhatmi, K. and Iranmanesh, V. and Zand, F. K. and Badiei, Z. and Farhangi, H. and Ghasemi, A. and Banihashem, A. and Esfehani, R. J. and Sadr-Nabavi, A. (2018) Prevalence of β-thalassemia mutations among northeastern Iranian population and their impacts on hematological indices and application of prenatal diagnosis, a seven-years study. Mediterranean Journal of Hematology and Infectious Diseases, 10 (1).

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Abstract

Background and Objective: β-thalassemia results from a diverse range of mutations inside the hemoglobin subunit β (HBB) gene. In a study of β-thalassemia carriers and some of their at-risk fetuses in the Khorasan province of Iran, we aimed to recognize the most common mutations in the region. We also investigated a possible link between these mutations and some of the relevant hematological indices. Methods: Amplification-refractory mutation system-PCR (ARMS-PCR) was used to detect the typical HBB mutations among 1593 individuals, suspected of having a mutated HBB allele from March/2011 to January/2018. Sanger sequencing of HBB had been performed, where ARMS-PCR was uninformative. In some cases, reverse dot blot was utilized. Analysis of variance was used to compare parametric variables. Results: Among 1273 β-thalassemia carriers, the prevalence of the mutations were reported as follows: IVS-I-5 (42.03), IVS-II-1 (11.23), codons 8/9 (4.79), codon 44 (4.56), codon 15 (3.53), Los Angeles (2.91), codon 5 (2.75), IVS-I-110 (2.51), -88 (2.20) and other mutations were less than 2 of all of the reported mutations. 644 conceptions were subjected to prenatal diagnosis, using chorionic villus sampling. 118 cases were reported as normal. 352 cases were detected as carriers. 174 cases were diagnosed as affected. There was a significant difference in mean corpuscular volume and hemoglobin A2 levels between the nine most commonly reported mutation types (p < 0.001). Conclusion: This study makes a reliable guide for β-thalassemia diagnosis in the region. The possibility of a correlation between HBB mutations and hematological indices opens a gate of future investigations. © 2018, Mediterranean Journal of Hematology and Infectious Diseases.

Item Type: Article
Additional Information: Cited By :2 Export Date: 16 February 2020 Correspondence Address: Sadr-Nabavi, A.; Medical genetics and head of the ACECR medical genetics center of Mashhad, Medical Genetics Department, School of Medicine, Mashhad University of Medical Sciences, Azadi Square, Iran; email: Sadrnabavia@mums.ac.ir
Uncontrolled Keywords: Complete blood count Khorasan Mutation prevalence Prenatal diagnosis β-thalassemia hemoglobin A2 hemoglobin beta chain allele Article beta thalassemia chorion villus sampling codon controlled study gene amplification gene mutation genetic association genetic risk HBB gene hematological parameters heterozygote human human cell Iranian people major clinical study mean corpuscular volume mutational analysis polymerase chain reaction population research prevalence rural area Sanger sequencing
Subjects: WH Hemic and Lymphatic System
WS Pediatrics
QZ pathology-neoplasms-Genetics
Divisions: Mashhad University of Medical Sciences
Depositing User: lib2 lib2 lib2
Date Deposited: 11 May 2020 06:35
Last Modified: 11 May 2020 06:35
URI: http://eprints.mums.ac.ir/id/eprint/17351

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