Dataset Information

The Prevalence Of ?-Thalassemia Mutations in South Western Maharashtra.

ABSTRACT: Thalassemia has been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. In this report, the prevalence of common ?-thalassemia mutations in India was defined in 126 ?-thalassemia carrier subjects in a western Indian population mainly from the south-western Maharashtra. The six most common ?-thalassemia mutations were detected, which included IVS I-5 (G-C), IVS I-1 (G-T), codon 8-9 (+G), codon 41/42 (-TCTT), Codon 15 (G-A), and 619 bp deletion at 3' end of ?-globin gene. These mutations accounted for 93.66 % in 126 ?-thalassemia carrier subjects and 6.34 % remained uncharacterized. Out of 126, 82 (65.07 %) showed the most common (prevalent) type of mutation, IVS I-5 (G-C), followed by IVS I-1 (G-T) showed by 12 (9.52 %) subjects. Three (2.38 %) subjects showed 619 bp deletion, codon 8/9 (+G) and codon 15 (G-A) mutations were present in eight subjects each (6.34 %). Only five (3.96 %) subjects showed codon 41/42 (-TCTT). There were eight (6.34 %) subjects where mutation was not any of the six mutations studied. This study provides the pattern of ? thalassemia mutations from south-western Maharashtra, which will help to prevent ?-thalassemia using prenatal diagnosis and proper counseling.

SUBMITTER: Satpute SB

PROVIDER: S-EPMC3477466 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature

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The Prevalence Of β-Thalassemia Mutations in South Western Maharashtra.

Satpute Sandeep B SB Bankar Mangesh P MP Momin Abdulrahaman A AA

Indian journal of clinical biochemistry : IJCB 20120617 4

Thalassemia has been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. In this report, the prevalence of common β-thalassemia mutations in India was defined in 126 β-thalassemia carrier subjects in a western Indian population mainly from the south-western Maharashtra. The six most common β-thalassemia mutations were detected, which included IVS I-5 (G-C), IVS I-1 (G-T), codon 8-9 (+G), codon 41/42 (-TCTT ...[more]

PMID: 24082466

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Project description:BackgroundThe frequency of the beta-thalassemia (β-thalassemia) gene in Indonesia ranges from 3 to 10%. However, in the East Java province, there is still limited information on the prevalence of β-thalassemia mutations in clinically diagnosed beta-thalassemia patients of East Java. Therefore, this study aimed to characterize β-thalassemia mutations in selected patients in the East Java province of Indonesia.MethodsThis is an analytical observational study. Diagnosis of β-thalassemia was based on clinical presentation, complete blood count (CBC), and hemoglobin (Hb) electrophoresis. Blood specimens taken from each patient in three ethylenediaminetetraacetic acid (EDTA) tubes were analyzed for CBC and Hb electrophoresis and processed for DNA extraction and subsequent polymerase chain reaction (PCR). Detection of mutations in Hemoglobin Subunit Beta (HBB) gene exons 1-3 of the β-thalassemia gene as the common mutation in Indonesia was done using PCR followed by Sanger sequencing.ResultsIn total, 33 (n = 33) participants were involved in this study with ages ranging from 5 to 17 years comprising 19 women and 14 men. Their ethnic origins were Javanese (n = 30) and Chinese (n = 3). CBC results showed that mean ± standard deviation (SD) for Hb, red blood cell (RBC), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), and red cell distribution width (RDW)-CV were 81.2 ± 7.0 g/L; 3.40 ± 0.39 × 109/L; 71.05 ± 5.72 fL; 24.12 ± 2.45 pg; 33.91 ± 1.47 g/dl; 24.38 ± 6.02%, respectively. Hb electrophoresis revealed that 5 out of 33 participants had beta-thalassemia and 28 out of 33 participants had hemoglobinopathy (Hb) E/beta-thalassemia. Results of Sanger sequencing showed the following genotype variations in the samples: 12 (36.4%) with β CD26 /β IVS-I-5; 6 (18.2%) with β CD26 /β CD35; 3 (9.1%) with β CD26 /β IVS-I-2; 2 (6.1%) with β CD27/28 /β CD40; 2 (6.1%) with β IVS-I-1 /β CAP+1; and β CD26 /β IVS-I-1; β IVS-I-5 /β CAP+1; β IVS-I-5 /β CD35; β CD26 /β CD37; β CD26 /β CD15; β CD26 /β CD40; and β IVS-I-5 /β CD19 in 1 (3%) sample, respectively, and 1 (3%) had no abnormality detected in sequencing even though electrophoresis showed abnormality in the migration pattern. The β CD26 /β IVS-I-5 mutation was found in samples that were noted to have Hb E/beta-thalassemia on Hb electrophoresis.ConclusionThe underlying genetic variations are heterogeneous in thalassemia patients in East Java, where 12 variants were found. The most common variant was β CD26 /β IVS-I-5, which all accounted for Hb E/beta-thalassemia on Hb electrophoresis. Furthermore, 28 out of 33 participants had hemoglobinopathy (Hb) E/beta-thalassemia.

Project description:In the last few decades, the prevalence of hypertension has been drastically increased in India. The present study estimates the current prevalence of hypertension and its correlates in the state of Maharashtra. The variation in the prevalence of hypertension associated with individual-level characteristics is explained at the community and district level.Data is used from the recent round of District Level Household & Facility Survey (DLHS-4), 2012-13. The DLHS-4 has used the nationally representative sample, collected through multistage stratified sampling procedure. A similar sampling frame, used in NSSO-2007-08, has been followed. The chi-square test is used to show the significance level of the association between the estimated prevalence of hypertension and its correlates. Multilevel regression analysis is carried out to investigate the effects of individual and community level factors on the prevalence of hypertension.The overall prevalence of hypertension is 25% in Maharashtra, and a huge variation in the prevalence of hypertension is found across the districts. Dhule, Gadchiroli (with a low HDI rank), Mumbai and Satara (with higher HDI rank) are the districts with the higher (above 30%) prevalence of high blood pressure. The prevalence also significantly varies according to different correlates. The prevalence of high blood pressure is higher among elderly population (40%), among males (28%), in the urban areas (27%) and in the richest wealth quintile (28%). The prevalence is also higher among cigarette smokers (31%), alcohol consumers (30%) and people with obesity (38%) as compared to their counterparts. The results of the multilevel analysis show that the older and obese persons are at four-time higher risk of hypertension. Again, age, sex, marital status, place of residence, wealth status, unhealthy habits (i.e. smoking and alcohol consumption) and BMI are significantly associated with hypertension. The results of VPC statistics show that 14% of hypertension prevalence could be attributed to differences at the community level.The prevalence of hypertension largely varies in the districts of Maharashtra irrespective of their level of socio-economic development (i.e. HDI rank). The variation in the rate of prevalence of hypertension is higher in the community (PSU) level as compared to the variation in the prevalence rate at the district level. Hypertension is attributable to the modifiable factors like risky lifestyle practices.

Project description:BackgroundMalaria is a major public health problem, especially for children. However, recent reports suggest a decline in the malaria burden. The aim of this study was to assess the change in the prevalence of malaria infection among children below five years of age between 2004 and 2010 in a mesoendemic area of Uganda and to analyse the risk factors of malaria infection.MethodsTwo cross-sectional surveys were conducted in 2004 and in 2010 at the end of the rainy and dry seasons to measure the prevalence of P. falciparum infection among children less than five years of age. Rapid diagnostic tests and blood smears were used to diagnose malaria infection. In 2010, sampling was stratified by urban and rural areas. In each selected household, knowledge of malaria and bed nets, and bed net ownership and use, were assessed.ResultsIn 2004 and 2010, respectively, a total of 527 and 2,320 (999 in the urban area and 1,321 in rural areas) children less than five years old were enrolled. Prevalence of malaria infection declined from 43% (95% CI: 34-52) in 2004, to 23% (95% CI: 17-30) in rural areas in 2010 and 3% (95% CI: 2-5) in the urban area in 2010. From the rainy to dry season in 2010, prevalence decreased from 23% to 10% (95% CI: 6-14) in rural areas (P = 0.001) and remained stable from 3% to 4% (95% CI: 1-7) in the urban area (P = 0.9). The proportion of households reporting ownership and use of at least one bed net increased from 22.9% in 2004 to 64.7% in the urban area and 44.5% in rural areas in 2010 (P < 0.001). In 2010, the risk of malaria infection was consistently associated with child age and household wealth. In rural areas, malaria infection was also associated with geographic factors.ConclusionsThis study reports a significant drop in the prevalence of malaria infection among children below five years of age, paralleled by an uptake in bed-net use. However, prevalence remains unacceptably high in rural areas and is strongly associated with poverty.

Dataset Information

The Prevalence Of ?-Thalassemia Mutations in South Western Maharashtra.

Publications

The Prevalence Of β-Thalassemia Mutations in South Western Maharashtra.

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