Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.

Von Willebrand factor (VWF) is a plasma glycoprotein that plays a key role in hemostasis. Mutations in this protein can result in von Willebrand disease (VWD), the most common form of bleeding disorder in humans. Patients with type 1 VWD have a quantitative plasmatic deficiency of normal structural and functional VWF. Our study aimed to investigate the phenotypic and genotypic characteristics of VWD type 1 patients in eastern Saudi Arabia, focusing on exon 28. We included patients previously diagnosed with WWD type 1 at the King Fahad teaching hospital in Al Khobar and their family members. The correlations between various phenotypic data and genotypic (exon 28) were analyzed using statistical software (SPSS) version 21. While these variants were generally considered benign with minor clinical effects, our analysis did identify two pathogenic variants that could lead to severe VWD symptoms. Specifically, we found these two pathogenic variants in three VWD patients from Saudi Arabia, providing essential insights into pathogenic VWD mutations in this population. Our study, therefore, sheds light on the prevalence of VWF variants in the eastern province of the Kingdom and highlights the need for continued research into the genetic causes of VWD in this region.

The association of thrombophilia in women with severe obstetric complications.

Thrombophilia, where multiple genetic and acquired risk factors interact synergistically, are associated with thrombosis and pregnancy-related complications. Despite being studied profusely, an inconsistent association exists between thrombophilia and pregnancy complications. Between 2018 and 2020, ninety-three women with pregnancy complications were enrolled in the study. Twenty-five healthy pregnant women without pregnancy complications reported to the same hospital were also recruited as controls. Blood samples were tested for homocysteine, coagulation studies, and molecular diagnosis included FVL, PTH and MTHFR genes amplified using PCR strip assay (Vienna Lab Diagnostics, Austria). Other thrombophilia screening, including testing for AT, PC, and LA, were done by chromogenic assays (Dade Diagnostica, Munich, Germany). Homocysteine level was determined by fluorescence polarization immunoassay technology (Axsym, Abbot company, Germany). Overall, 29.03% of women with pregnancy complications had thrombophilia relative to 16% in the control group. However, the difference between the case and control groups did not reach a significant level (p=0.1175). Additionally, combined thrombophilia was more prevalent among cases (10.75%) than in the control group (4%). However, the difference did not reach statistical significance (p=0.1046). Our study demonstrated that the frequency of thrombophilia among healthy women was 16%, and among women with pregnancy-related complications, 29%. Relative to control, all measured thrombophilia markers were more frequent in women with pregnancy-related complications except for LA. Including all the studies on the Saudi population in a meta-analysis study could reveal more information about thrombophilia and pregnancy-related complications in our population.

Prevalence of Hepatitis B Virus (HBV) Among Blood Donors in Eastern Saudi Arabia: Results From a Five-Year Retrospective Study of HBV Seromarkers.

BACKGROUND: Transfusion-transmissible hepatitis B virus (HBV) infection is a major problem worldwide. Recently, confirmatory nucleic acid tests (NATs) for HBV DNA have been employed in several countries. We assessed the prevalence and yearly trends of HBV infection in blood donors in the Eastern Province of Saudi Arabia, screening for HBV surface antigen (HBsAg), antibody against HBV core antigen (anti-HBc), and HBV DNA. METHODS: Between 2011 and 2015, a total of 22,842 donors were screenedfor HBsAg, anti-HBc, and HBV DNA using the HBsAg Qualitative II kit (Abbott, Ireland Diagnostics Division, Sligo, Ireland), ARCHITECT Anti-hepatitis B core antigen antibody (HBc) II Assay kit (Abbott GmbH & Co. KG, Wiesbaden, Germany), and NAT Procleix Ultrio Elite Assay kit (Grifols Diagnostic Solutions Inc., Los Angeles, CA, USA), respectively. RESULTS: A total of 739 (3.24%) donors were HbsAg(+), anti-HBc(+), or HBV DNA(+); 63 (0.28%) were HbsAg(+), anti-HBc(+), and HBV DNA(+). Twelve (0.05%) were anti-HBc(+) and HBV DNA(+) but HBsAg(-); they were considered to have occult infection. Further, 664 (2.91%) were HBsAg(-) but anti-HBc(+), indicating chronic or resolving infection. HBV prevalence increased significantly from 2011 to 2012, increased marginally till 2013, and showed a decreasing trend from 2013 (P>0.05). CONCLUSIONS: The five-year prevalence of HBV infection among blood donors in the Eastern Province of Saudi Arabia (3.24%) is lower than that reported for other regions in the country. The occult HBV infection rate of 0.05% emphasizes the importance of NATs in isolating potential infectious blood units.

Acinetobacter baumannii Infection in Transfusion Dependent Thalassemia Patients with Sepsis.

PURPOSE: To identify the Acinetobacter baumannii infection among transfusion dependent thalassemia patients. METHODS: A quantitative approach was employed to assess Acinetobacter baumannii infection in transfusion dependent thalassemia patients. Samples were collected from 916 patients, which have shown bacterial growth on MacConkey and blood agar culture media. A. baumannii strains were identified by microbiological methods and Gram's staining. API 20 E kit (Biomerieux, USA) was used for final identification. RESULTS: From 916 cultured blood specimens, 107 (11.6%) showed growth of A. baumannii. Serum ferritin in thalassemic patients without bacterial infections was 3849.5 ± 1513.5 µg/L versus 6413.5 ± 2103.9 µg/L in those with bacterial infections (p = 0.0001). Acinetobacter baumannii infected patients have shown higher serum ferritin levels (p = 0.0001). Serum ferritin in thalassemic patients was 3849.5 ± 1513.5 µg/L versus 6413.5 ± 2103.9 µg/L in those with bacterial infections (p = 0.0001). Acinetobacter baumannii infected patients showed high serum ferritin levels (p = 0.0001). The clinical symptoms have been found with A. baumannii +ve with a mean and standard deviation of 47 (5.1%) and A. baumannii -ve with mean and standard deviation of 60 (6.5%). CONCLUSION: Isolation of asymptomatic A. baumannii from the thalassemia patients shows an alarming situation of bacterial infections. A continuous surveillance of transfusion dependent thalassemia patients is recommended for bacterial sepsis.