Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Mutations in Thalassemia Carrier Couples: The Importance of Prenatal Diagnostic Tests

Sun Jul 21 16:30:15 2024

(2022) Mutations in Thalassemia Carrier Couples: The Importance of Prenatal Diagnostic Tests. Clinical Laboratory. pp. 2345-2353. ISSN 1433-6510

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Background: Thalassemia carrier couples play an important role in increasing thalassemia patients. The study of thalassemia genotypes in carrier couples is also effective in improving genetic counseling for them. The aim of this study was to investigate the prevalence of thalassemia mutations and genotypes in couples. Methods: This cross-sectional study was performed on 241 couples who were suspected of thalassemia from April 2018 to March 2020 in Lorestan province. Statistical analysis of data was performed using SPSS software 16.0 (SPSS Inc., Chicago, IL, USA). Online tools such as and were also used to match patients' mutations with known cases. Results: IVSII-1 (G>A), CD36-37 (-T), IVSI-110 (G>A), —Med, and alpha(3.7 )were the most common mutations in the beta and alpha genes, respectively. IVSII-1 (G>A) 130/13 (26.1), CD36-37 (-T) beta 0/beta (21.1), and IVSI-110 (G>A) beta 0/beta (10.3) genotypes were the most common in women. The frequency of these genotypes in men were 24.8, 28.6, and 12.8, respectively. Among alpha thalassemia carriers, the alpha(3.7)alpha/alpha alpha genotype had the highest frequency among women (3.7) and men (5.3). Alpha and beta-thalassemia were 15 and 13 times higher in related women and 18 and 9 times higher in related men than non-related ones, respectively. This difference was statistically significant (p < 0.001). In addition, 12.8 of fetuses were thalassemia major, 31.9 beta thalassemia minor, and 10.3 normal. Conclusions: Thalassemia screening in related couples plays an important role in reducing thalassemia major infants.

Item Type: Article
Mohamadinejad, M.UNSPECIFIED
Keywords: mutation thalassemia genotype diagnosis molecular-basis consanguineous marriage Medical Laboratory Technology
Page Range: pp. 2345-2353
Journal or Publication Title: Clinical Laboratory
Journal Index: ISI
Volume: 68
Number: 5
Identification Number:
ISSN: 1433-6510
Depositing User: مهندس مهدی شریفی

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