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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.
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BACKGROUND: Globally, congenital toxoplasmosis remains a significant cause of morbidity and mortality, and outbreaks of T. gondii infection represent a major public health threat, especially in developing countries. Evidence in the literature indicates that only a few studies have been conducted on the incidence of maternal and congenital toxoplasmosis in Saudi Arabia. This prospective study aims to measure the overall incidence of congenital toxoplasmosis, both patent and 'silent' infection, among pregnant women in the Eastern Province of Saudi Arabia. The study would attempt to relate the cord blood results with the time of seroconversion in the mother, underlining the importance of early intervention in such cases. METHODS: Five hundred paired maternal/cord blood samples were tested for anti-Toxoplasma IgG or IgM antibodies. Samples were collected during delivery from mother and newborn (cord blood) from November 2011 to May 2012. Only positive for anti-Toxoplasma IgG or/and IgM cord blood was processed for real-time PCR for confirmation. The age of mothers ranged from 16 to 45 years. RESULTS: The sample subjects were tested during child delivery for specific IgG and IgM antibodies against Toxoplasmosis, of which 21.0% (n = 105) mother/baby pairs were found serologically positive for anti-Toxoplasma IgG antibodies. The rate of maternal seropositivity for anti-Toxoplasma IgM antibodies was found among 4 participants (0.8%), who were also seropositive for anti-Toxoplasma IgG antibodies. None of the children tested positive for anti-Toxoplasma IgM antibodies, even those born to mothers with IgM positive. All 105 cord blood tests in the study sample were confirmed negative by real-time PCR. The seroprevalence of Toxoplasma IgG antibodies increased with maternal age, parity, and was significantly higher in women who gave birth to children with congenital anomalies (p = 0.008). CONCLUSION: The findings of the current study indicate a dire need to develop and implement preventive programs against Toxoplasma gondii infection, as well as a health education program on how to avoid toxoplasmosis for all seronegative women during pregnancy.
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OBJECTIVE/BACKGROUND: Mutations in transmembrane protease serine 6 (TMPRSS6) gene induce high hepcidin level, which causes iron-refractory iron deficiency anemia (IRIDA) by preventing duodenal iron absorption. This study aims to identify the common genetic variations of the TMPRSS6 gene that affect iron levels among Saudi female patients with iron deficiency anemia (IDA). METHODS: All study participants were Saudi females (12-49 years old): 32 patients with IDA, 32 patients with IRIDA, and 34 healthy individuals comprising the control group. Hematological investigations, iron profile, serum hepcidin level, and TMPRSS6 gene transcription were determined. The TMPRSS6 gene was amplified, sequenced, and analyzed among all study participants. RESULTS: The mean hepcidin and TMPRSS6 RNA transcription levels in IDA and IRIDA groups were significantly lower than those in the control group. TMPRSS6 gene sequence analysis detected 41 variants: two in the 5' untranslated region (5'UTR), 17 in introns, and 22 in exons. Thirty-three variants were previously reported in the Single Nucleotide Polymorphism Database, and eight variants were novel; one novel variant was in 5'UTR (g.-2 T > G); five novel variants were detected in exons (p.W73X, p.D479N, p.E523K, p.L674L, and p.I799I). At the time of the sequence analysis of our samples, two variants-p.D479N and p.674L-were novel. However, these variants are present at a very low allele frequency in other populations (L674L, 0.00007761 and D479N, 0.000003980). CONCLUSION: This is the first study to investigate the genetic variants of TMPRSS6 gene in Saudi female patients with IDA. The generated data will serve as a reference for future studies on IDA in the Arab population.