Detection of human platelets antigen polymorphism (HPA-1 and HPA-3) and human factor XIII mutation in Sudanese women with recurrent pregnancy loss.

BACKGROUND: Recurrent pregnancy Loss (RPL) is common problem affecting many couples. A certain genetic variants link to increase the danger of this condition particularly HPA-1, HPA-3 and Human Factor XIII Val34Leu Mutation. The present study aims to find an association between RPL and the Factor XIII Val34Leu polymorphism, as well as HPA-1 and HPA-3 in Sudanese women with RPL. METHODS: This case-control study conducted between June 2022 and December 2022 included 216 women, with 103 cases having minimum three abortions in the past, and 113 healthy controls with at least two full-term births and no abortion history. DNA was isolated from whole blood and the status of three genetic polymorphisms (HPA-1, HPA-3, and factor XIII) was done using a polymerase chain reaction (PCR). Data was analysed using the SPSS version 24 software. RESULTS: The A/A genotype was found to be more prevalent in cases (79.6%) and controls (96.5%) regarding HPA-1. A significant difference was observed in overall allele frequency for B allele (97.0%) and expected frequency of A allele was (81.1%) using the Hardy-Weinberg distribution (p < 0.001). The genotype A/A was most common in these patients (90.3%) and controls (100%), while B/B genotype was only (9.7%) in patients regarding HPA-3. Furthermore, the frequency of Val/Val genotype was higher in cases (88.3%) as compared with controls (90.3%). The risk of RPL in patients was nearly the same in Val/Leu individuals and controls group but all these differences were not statistically significant (p > 0.05). CONCLUSION: Our results indicate a link between Human Platelet Antigen-1 (HPA-1), Human Platelet Antigen-3 (HPA-3) and Factor XIII gene polymorphism with RPL.

Investigation of the Bleeding Tendency in Sudanese Female Carriers of Hemophilia B.

Background: Hemophilia (HB) is an X-linked, recessive bleeding disorder characterized by the deficiency or absence of the coagulation factor IX. Usually, females are carriers of the trait, while males are affected. FIX deficiency leads to uncontrollable bleeding events, and the severity is dependent on the levels of the clotting factor. The objective of this research was to measure the prevalence of bleeding tendency in Sudanese carriers of HB. Materials and Methods: In this cross-sectional study, 88 Sudanese carriers of HB participated. The activated partial thromboplastin time test (APTT) and FIX test were performed for each carrier. The frequencies of DNA polymorphism and FIX-linked restriction fragments BamHI, HhaI, and MnII were also assessed. The study was conducted in Khartoum, Sudan, during the period from 2015 to 2017. Results: The study showed that 55 (62.5%) HB carriers were from the Laban village in the White Nile State, and all of them were members of the Shinkheb tribe. The mean age of the study population was 26.3 years. Among the carriers, 57 (64.7%) had abnormal coagulation profiles. The mean value of the APTT level among carriers was significantly increased (P value: 0.000), while the mean concentration of the FIX levels among the carriers was significantly decreased (P value: 0.000). The study also showed a negative correlation between PTT and F assay with P value of 0.000 and R value of 0.578. Conclusion: The APTT is high in most carriers and the FIX assay level is low in most carriers. Most carriers had no symptoms and were not bleeding. The Shinkheb tribe is the most ethnic tribe carrying HB (62.5%). HhaII is more informative for carrier detection than others, but it is of significant value if both (MnII and HhaII) were performed in parallel. In Sudanese, BamHI was informative but MnII and HhaII were best in the mutation detection and for prenatal diagnosis.