Pregnant women in resource-poor areas are at risk of multiple micronutrient deficiencies, and indicators of low vitamin B-12 status have been associated with adverse pregnancy outcomes, including anemia, low birth weight, and intrauterine growth retardation. To evaluate whether daily oral vitamin B-12 supplementation during pregnancy increases maternal and infant measures of vitamin B-12 status, we performed a randomized, placebo-controlled clinical trial. Pregnant women <14 wk of gestation in Bangalore, India, were randomly assigned to receive daily oral supplementation with vitamin B-12 (50 μg) or placebo through 6 wk postpartum. All women were administered iron and folic acid supplements throughout pregnancy. One hundred eighty-three women were randomly assigned to receive vitamin B-12 and 183 to receive placebo. Compared with placebo recipients, vitamin B-12-supplemented women had significantly higher plasma vitamin B-12 concentrations at both the second (median vitamin B-12 concentration: 216 vs. 111 pmol/L, P < 0.001) and third (median: 184 vs. 105 pmol/L, P < 0.001) trimesters. At 6 wk postpartum, median breast milk vitamin B-12 concentration was 136 pmol/L in vitamin B-12-supplemented women vs. 87 pmol/L in the placebo group (P < 0.0005). Among vitamin B-12-supplemented women, the incidence of delivering an infant with intrauterine growth retardation was 33 of 131 (25%) vs. 43 of 125 (34%) in those administered placebo (P = 0.11). In a subset of infants tested at 6 wk of age, median plasma vitamin B-12 concentration was 199 pmol/L in those born to supplemented women vs. 139 pmol/L in the placebo group (P = 0.01). Infant plasma methylmalonic acid and homocysteine concentrations were significantly lower in the vitamin B-12 group as well. Oral supplementation of urban Indian women with vitamin B-12 throughout pregnancy and early lactation significantly increases vitamin B-12 status of mothers and infants. It is important to determine whether there are correlations between these findings and neurologic and metabolic functions. This trial was registered at clinicaltrials.gov as NCT00641862.

Aim: To evaluate the vitamin B₁₂ status of South Indian women in early pregnancy and its relationship with sociodemographic, anthropometry and dietary intake. Methods: Cross-sectional study among 366 pregnant urban South Indian women ≤14 weeks of gestation with outcome variables defined as low vitamin B₁₂ blood concentration (<150 pmol/l) and impaired vitamin B₁₂ status [low vitamin B₁₂ plus elevated methylmalonic acid (MMA) >0.26 µmol/l)]. Results: Low plasma vitamin B₁₂ concentration was observed in 51.1% of the women, while 42.4% had impaired B₁₂ status. Elevated MMA, elevated homocysteine (>10 µmol/l) and low erythrocyte folate (<283 nmol/l) were observed among 75.8, 43.3 and 22.2% of the women, respectively. The median (25th, 75th percentile) dietary intake of vitamin B₁₂ was 1.25 (0.86, 1.96) µg/day. Lower maternal body weight was associated with higher vitamin B₁₂ concentration [prevalence ratios (PR) (95% CI) 0.57 (0.39, 0.84)]. The predictors of impaired vitamin B₁₂ status were no consumption of yoghurt [PR (95% CI) 1.63 (1.03, 2.58)] or fish [PR (95% CI) 1.32 (1.01, 1.71)] and primiparity [PR (95% CI) 1.41 (1.05, 1.90)]. Conclusion: A high prevalence of vitamin B₁₂ deficiency in early pregnancy among urban South Indian women was related to primiparity and to a low consumption of yoghurt and fish.

Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have been found to be mutated in FA patients are called FANC. To date 16 distinct FANC genes have been reported. Among these, mutations in FANCA are the most frequent among FA patients worldwide which account for 60- 65%. In this study, a nine years old male child was brought to our hospital one year ago for opinion and advice. He was the third child born to consanguineous parents. The mutation analyses were performed for proband, parents, elder sibling and the relatives [maternal aunt and maternal aunt’s son (cousin)]. Molecular genetic testing [targeted next-generation sequencing (MiSeq, Illumina method)] was performed by mutation analysis in 15 genes involved. Entire coding exons and their flanking regions of the genes were analysed. Sanger sequencing [(ABI 3730 analyzer by Applied Biosystems)] was performed using primers specific for 43 coding exons of the FANCA gene. A novel splice site mutation, c.3066 + 1G > T, (IVS31 + 1G > T), homozygote was detected by sequencing in the patient. The above sequence variant was identified in heterozygous state in his parents. Further, the above sequence variant was not identified in other family members (elder sibling, maternal aunt and cousin). It is concluded that genetic study should be done if possible in all the cases of suspected FA, including siblings, parents and close blood relatives. It will help us to plan appropriate treatment and also to select suitable donor for hematopoietic stem cell transplantation and to plan for genetic counseling. In addition to the case report, the main focus of this manuscript was to review literature on role of FANCA gene in FA since large number of FANCA mutations and polymorphisms have been identified.

Objective To identify correlates of anaemia during the first trimester of pregnancy among 366 urban South Indian pregnant women. Design Cross-sectional study evaluating demographic, socio-economic, anthropometric and dietary intake data on haematological outcomes. Setting A government maternity health-care centre catering predominantly to the needs of pregnant women from the lower socio-economic strata of urban Bangalore. Subjects Pregnant women (n 366) aged ≥18 and ≤40 years, who registered for antenatal screening at ≤14 weeks of gestation. Results Mean age was 22.6 (SD 3.4) years, mean BMI was 20.4 (SD 3.3) kg/m2 and 236 (64.5%) of the pregnant women were primiparous. The prevalence of anaemia (Hb <11.0g/dl) was 30.3% and of microcytic anaemia (anaemia with mean corpuscular volume <80fl) 20.2%. Mean dietary intakes of energy, Ca, Fe and folate were well below the Indian RDA. In multivariable log-binomial regression analysis, anaemia was independently associated with high dietary intakes of Ca (relative risk; 95% CI: 1.79; 1.16, 2.76) and P (1.96; 1.31, 2.96) and high intake of meat, fish and poultry (1.94; 1.29, 2.91). Conclusions Low dietary intake of multiple micronutrients, but higher intakes of nutrients that inhibit Fe absorption such as Ca and P, may help explain high rates of maternal anaemia in India.