Maternal vitamin B12 and the risk of fetal neural tube defects

Folic acid insufficiency is a known risk factor for neural tube defects [NTDs], while the role of vitamin B12 is questionable. Thus, our purpose was to investigate if low maternal serum vitamin B12 is associated with an increased risk of NTDs. Prenatal Diagnosis and Clinical Genetics Clinics, National Research Center, in collaboration with the Radioisotope Department, Nuclear Research Center. The study groups included 36 women who were, or had been, pregnant with a NTD-affected fetus. The control groups comprised 35 healthy women with normal prior or current pregnancy and uncomplicated obstetric histories. Fasting plasma homocysteine, serum folate and cobalamin [vitamin B12] were performed. Odds ratio [OR] and 95% confidence intervals were calculated. The fasting homocysteine was significantly higher in the study groups as compared to the controls. The median serum folate concentrations were similar in cases and controls. While the median vitamin B12 concentrations were significantly lower in the study groups compared to the controls. Low vitamin B12 concentration was associated with an approximately 2 to 3 fold increased risk for NTDs. Low maternal serum of vitamin B12 can be considered an important etiologic factor for the development of neural tube defects in our population. This may help in both genetic counseling for families with history of NTDs malformation, and as a preconceptional prophylactic measure by maternal supplementation of vitamin B12 and folic acid

effect of-3.7 a-globin gene deletion and gamma-globin gene polymorphism on clinical variability of B-thalassemia in Egyptian patients

Beta-Thalassemias pose by far be most important global public health problem, hence a good undertaning of their natural history and the factors that can modifytheir clinical phenotype is a must to understand the heterogeneity in both phenotype and genotype. Sixty-two beta-thalassima patients classified clinically into severe, late onset and intermedia phenotyps were studied for beta-globin gene mutations, alpha-globin gene [-3.7] deletion and-185 G-T gamma-gobin gene Xmnl polymorphism. Twenty one different beta-thalassemia genotypes were found, alpha globin gene deletions were dtcte in 3.2% of patients and gamma-globin gene XmnI polymorphsm in 4.8% of the studied. Cases cointheritance of alpha delectation and gamma-globin gene polymorphism were associated with intermedia phenotype [in 5.7% of intermedia cases]. Disease severity could not be explained by the beta-globin gene mutation in 20.9% of patients, further genetic studies are needed