Asian Hematology Research Journal

Thrombophilia comprises a group of genetic disorders that cause abnormal blood clotting and are linked to recurrent pregnancy loss (RPL). Thrombophilic gene polymorphisms are known risk factors for RPL. This study was conducted to investigate the relationship between mutations in thrombophilia-associated gene polymorphisms and RPL. This descriptive cross-sectional study was carried out from July 2022 to December 2022 to identify ribosomal protein S20 genetic variants in Sudanese women experiencing recurrent pregnancy loss in Khartoum State. Fifty females were included in this study. Their average age was 34.5 years, ranging from 19 to 50 years, and they were divided into three groups: 19-30, 31-40, and >40 years. Of the females with a history of RPL, 8% had diabetes mellitus (DM), 18% had hypertension (HTN), and 74% had no chronic disease. Thirty per cent had a family history of thrombophilia, whereas 70% had no family history. The frequency distribution of blood groups among females with RPL was A+ve (16%), B+ve (10%), AB+ve (8%), O+ve (56%), A-ve (2%), and O-ve (8%). According to the number of previous abortions, 2% had two, 62% had three, 26% had four, 2% had five, 4% had six, and 4% had seven previous abortions. After completion of the questionnaire, blood samples were collected from each female under sterile conditions into EDTA containers. DNA was isolated by the salting-out procedure, and genetic variants were assessed by restriction fragment length polymorphism analysis. Following PCR amplification and restriction-enzyme digestion, the resulting fragments were electrophoresed through a 1.5% agarose gel containing ethidium bromide and examined under ultraviolet light. Either one band, representing the dominant gene AA at 290 bp, or two bands, representing the mutated gene AT at 250 + 40 bp, were produced. The results were analysed using SPSS version 25. Genetic analysis showed that the RPS20 mutation was found in 4 (8%) females with a history of RPL, while 46 (92%) had the normal gene. No correlation was observed between RPS20 mutation and age group (p = 0.498), associated chronic diseases (p = 0.206), family history of thrombophilia (p = 0.363), or number of previous abortions (p = 0.751). A statistically significant association was identified between RPS20 mutation status and blood group among females with RPL (p = 0.025). Overall, an RPS20 mutation was identified in a few females with RPL, while most had the normal RPS20 gene.