Browsing by Author "Jain S."

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Association of BCL11A genetic variant (Rs11886868) with severityin β-thalassaemia major & sickle cell anaemia
(Indian Council of Medical Research, 2016) Dadheech S.; Madhulatha D.; Jain S.; Joseph J.; Jyothy A.; Munshi, Anjana
Background & objectives: The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including ?-thalassaemia major and sickle cell anaemia (SCA). The present study was undertaken to analyse ?-thalassaemia as well as SCA patients for the single nucleotide polymorphism (SNP), rs11886868 (T/C) in BCL11A gene and to evaluate the association between this polymorphism and severity of ?-thalassaemia major and SCA. Methods: A total of 620 samples (420 ?-thalassaemia major and 200 SCA cases) were analysed before blood transfusion using basic screening tests like complete blood analysis and osmotic fragility and further confirmed by high performance liquid chromatography (HPLC), amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and reverse dot blot techniques. All patients were transfusion dependent. Patients with ?-thalassaemia and SCA were classified into mild, moderate, severe according to the severity score based on Hb levels, age of onset, age at which patients received their first blood transfusion, the degree of growth retardation and splenectomy. ?-thalassaemia as well as SCA patients were analysed for the SNP, rs11886868 (T/C) in BCL11A gene and association between this polymorphism and severity of ?-thalassaemia major as well as SCA was evaluated. Results: There was a significant difference in genotypic and allelic frequencies of BCL11A gene polymorphism between mild and moderate and mild and severe cases in both the groups. A significant (P<0.001) difference was observed in the mean HbF levels between the three genotypes in different severity groups. HbF levels were found to be high in CC genotype bearing individuals followed by TC and TT in ?-thalassaemia major as well as SCA. Interpretation & conclusions: This study confirms that the T/C variant (rs11886868) of the BCL11A gene causing downregulation of BCL11A gene expression in adult erythroid precursors results in the induction of HbF and ameliorates the severity of ?-thalassaemia as well as SCA.
Evaluation of heavy metals toxicity in the groundwater of some villages of Sirsa district of Haryana, India
(Rasayan Journal of Chemistry, c/o Dr. Pratima Sharma, 2019) Kumar P.; Jain S.; Kumar B.
An attempt was made to assess the groundwater quality in some rural parts of Sirsa district of Haryana, India with respect to heavy metals contamination. For this purpose, 23 groundwater samples were collected from the bore wells during pre-monsoon in 2017 from some selected locations in the study area where the groundwater is used for drinking and agricultural activities. The samples have been analyzed for seven heavy metals viz. Mn, As, Zn, Cd, Pb, Cu and Cr using ICP-MS. The results were compared with the BIS standards to assess the suitability of groundwater for drinking. To assess the heavy metal contamination, the heavy metal pollution index (HPI), metal index (MI) and hazard index (HI) was calculated. The groundwater with HI > 1 falls in the high pollution category. In our study, 10 out of 23 samples were not fit to consume by the infants and all the 23 samples were found to be unfit for both the children and the adults. The correlation matrix showed a good correlation of HPI with Mn (r = 0.998), As (r = 0.993), Cu (r = 0.998), Cr (r = 0.998) and with Pb (r = 0.998) whereas the correlation of MI with Mn (r = 0.998), As (r = 0.994), Cu (r = 0.998), Cr (r = 0.999) and with Pb (r = 0.998).