Plasminogen activator inhibitor-2 and impaired fibrinolysis in pregnancy and sickle cell anemia.

PURPOSE: This is the first study that aimed to determine antigen levels in plasma and genotypes of PAI-2 in pregnant and non-pregnant homozygous sickle cell anemia (SCA) patients. METHODS: The study subjects were all Bahraini females in the reproductive age group. The study population included 31 pregnant homozygous SS (SCA) patients. Three control groups were also studied to evaluate the effect of pregnancy and SCA on PAI-2 levels and fibrinolysis: (1) 31 healthy non-pregnant volunteers; (2) 31 cases of normal pregnancy; and (3) 20 non-pregnant SCA patients. Pregnancies were screened in the second (TM2) and third (TM3) trimesters. Global coagulation, fibrinolysis rate (euglobulin clot lysis time, ECLT), PAI-2 antigen (ELISA), and PAI-2 Ser(413)/Cys polymorphism (restriction fragment length polymorphism analysis) were determined. RESULTS: Feto-maternal complications were documented in both pregnancy groups. PAI-2 antigen levels were undetectable in the non-pregnant groups, but was quantifiable in both pregnant groups. Impaired fibrinolysis rate and rising PAI-2 levels with progression of pregnancy were observed in both healthy and SCA subjects. These changes were more prominent in SCA, although the rise in ECLT was less steep and PAI-2 antigen levels were not significantly different compared to normal pregnancy in the third trimester. No correlation was observed between PAI-2 genotypes and plasma antigen levels. Also, no significant difference in feto-maternal complications was found in normal (n = 25) versus SCA pregnant patients (n = 30). CONCLUSIONS: These observations suggest that with progression of pregnancy, increasing PAI-2 levels contribute to the hypercoagulable state, particularly in SCA patients.

TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia.

Iron-refractory iron deficiency anemia (IRIDA) is considered an autosomal recessive iron deficiency anemia due to mutations in the transmembrane protease serine 6 (TMPRSS6) gene. Variations in iron parameters and a higher risk of iron deficiency have been linked to the TMPRSS6 mutations. Furthermore, human genome-wide association studies (GWAS) identified a common mutation (rs855791) linked to abnormal hematological parameters, highlighting the importance of the TMPRSS6 gene in the regulation of iron homeostasis. This is the first study to investigate TMPRSS6 gene mutation in six Saudi families of probands with iron deficiency anemia unresponsive to oral iron and partially responsive to parenteral iron administration. Each participant provided a vacutainer tube with three blood samples (2.5 ml each) and analyzed based on hematological, biochemical iron profiles, and followed by genotyping by PCR. The TMPRSS6 gene was amplified, sequenced, and analyzed in all probands and family members. Statistical analysis was done using SPSS and SHEsis software. Few functional mutations in these families were suggested (p.W73X, p.E523K and p.V736A). The proband of family 6 presented numerous hematological abnormalities upon initial consultation, including normocytic anemia accompanied by low Hb, normal MCV, low serum iron, low serum ferritin, and normal TIBC. While the p.W73X variant was only found in 2 families, the p.V736A variant was found in all examined Saudi families with IRIDA. Given the evidence outlined for these six cases, future genotype-phenotype correlation studies in a large number of IRIDA patients in Saudi Arabia may be very informative for patient management, in addition to increasing knowledge of TMPRSS6 function during development as well as factors in the regulation of TMPRSS6 and its effect on iron levels in the body.

Knowledge, Attitude, and Behavior Toward Organ Donation and Transplantation Among Medical Students in the Eastern Province of Saudi Arabia.

BACKGROUND: Organ donation is an integral part of medical ethics worldwide, including Saudi Arabia. Although the Saudi community has a positive attitude toward the concept of organ donation and transplantation, several factors prevent people from agreeing to donate organs and tissues. This study aimed to explore and evaluate the knowledge and attitudes medical students in the Eastern Province of Saudi Arabia have toward organ donation and transplantation. METHODS: A cross-sectional study among 722 medical students in the Eastern Province. The questionnaire consisted of 3 parts: sociodemographic questions, organ donation and transplantation knowledge questions, and questions on attitudes toward organ donation and reasons for consenting or refusing to donate. RESULTS: Both men and women had positive attitudes toward organ donation. The level of knowledge of organ donation and related procedures did not differ significantly among men (13.07%) and women (13.60%) (P < .027). The motives for donation were the desire to help others (88.8%) (P = .02) and sympathy (59.8%). The main source of information on organ donation for respondents was television, followed by the internet and relatives and/or friends. CONCLUSIONS: While medical students are generally supportive of organ donation and transplantation, they may lack basic knowledge on organ donation. Due to lack of basic knowledge, they become hesitant to make the decision to donate. It is recommended that additional organ donation modules be included in the student curriculum to increase the knowledge of future health care providers. Most of the participants would not change their attitudes toward organ donation based on the Saudi government initiatives to register for the Saudi Center for Organ Transplantation organ donation program.

Psychosocial Impact of Sickle Cell Disease and Diabetes Mellitus on Affected Children and Their Parents in Khartoum State, Sudan.

This study aimed to assess the psychosocial impact of sickle cell disease (SCD) and diabetes mellitus on children and their parents in Sudan, and the relationship between socioeconomic status and psychosocial issues. A descriptive, cross-sectional study was conducted among n = 320 children aged 6-12 years, of whom n = 170 were diagnosed with SCD, n = 150 children with diabetes mellitus and their parents. The strengths and difficulties questionnaire (SDQ scale) was used to assess the psychosocial aspect of children. Depression, Anxiety, Stress Scale -21 Items (DASS 21) was used to assess the psychological well-being of the caregivers. Data on psychological problems of children with SCD showed that 66.5% had emotional symptoms, 18.2% had conduct problems and 19.4% hyperactivity. Data of parents showed that 45.9% of parents did not experience depression; 27.9% were moderately depressed group. Data on psychological problems among children with diabetes showed that 57.3% experienced emotional symptoms, conduct problems were close to the average among 66%. Data on psychological problems among parents of children with diabetes showed that 45.3% of parents did not experience depression; 22.7% belonged to the moderately depressed group. Psychosocial problems were common both among children and parents. More research is needed in the context of caring for a child with chronic diseases and the role of health care providers in adapting and mitigating psychological problems among both parents and children.