Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region‐wise heterogeneity

Edison, Eunice Sindhuvi; Shaji, R. V.; Devi, S. Asha; Moses, Anu; Viswabandhya, Auro; Mathews, Vikram; George, Biju; Srivastava, Alok; Chandy, Mammen

doi:10.1111/j.1399-0004.2008.00973.x

Cited by 38 publications

(11 citation statements)

References 33 publications

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“…As might have been expected in studies conducted over an extended time period, the methods of genomic analysis employed in the 17 studies varied quite widely and included gap-polymerase chain reaction (PCR), denaturing gradient gel electrophoresis (DGGE), temporal temperature gel electrophoresis (TTGE), amplification refractory mutation system (ARMS), reverse dot blot hybridization (RDB), and direct DNA sequencing (Varawalla et al 1991a;Verma et al 1997;Vaz et al 2000;Old et al 2001;Agarwal et al 2003;Bashyam et al 2004;Sheth et al 2008;Edison et al 2008;Colah et al 2009). For this reason, some variability may inadvertently have resulted in the mutation profiles reported by individual study centres.…”

Section: Methodsmentioning

confidence: 99%

“…At the same time, a screening project based on 56,814 college students and pregnant women recruited in the states of Maharashtra, Gujarat, Punjab, Karnataka, West Bengal and Assam indicated a carrier rate of 2.78% (Mohanty et al 2008). These different carrier frequency estimates have been used to approximate the numbers of new affected births per year, which have been calculated to range from 10,000 to 15,000 cases (Edison et al 2008;Sheth et al 2008;Tamhankar et al 2009), of which 8,000-10,000 would present with a severe form of the disease (Colah et al 2009). If accurate, the figures would indicate a cumulative total of 100,000 children with thalassaemia major in India (WHO 2008).…”

Section: Introductionmentioning

confidence: 99%

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Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes

Sinha

Black

Agarwal

et al. 2009

HUGO J

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Thalassaemia and sickle cell disease have been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. To create a national and regional profile of b-thalassaemia mutations in the population of India, a meta-analysis was conducted on 17 selected studies comprising 8,505 alleles and offering nearnational coverage for the disease. At the national level 52 mutations accounted for 97.5% of all b-thalassaemia alleles, with IVSI-5(G[C) the most common disease allele (54.7%). Population stratification was apparent in the mutation profiles at regional level with, for example, the prevalence of IVSI-5(G[C) varying from 44.8% in the North to 71.4% in the East. A number of major mutations, such as Poly A(T[C), were apparently restricted to a particular region of the country, although these findings may in part reflect the variant test protocols adopted by different centres. Given the size and genetic complexity of the Indian population, and with specific mutations for b-thalassaemia known to be strongly associated with individual communities, comprehensive disease registries need to be compiled at state, district and community levels to ensure the efficacy of genetic education, screening and counselling programmes. At the same, time appropriately designed community-based studies are required as a health priority to correct earlier sampling inequities which resulted in the under-representation of many communities, in particular rural and socioeconomically under-privileged groups.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes

Sinha

Black

Agarwal

et al. 2009

HUGO J

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“…There are about 85 small deletions reported in the β-globin gene and they are relatively uncommon in number and prevalence compared to point mutations that cause this disease (2). We found about 50 different mutations that are prevalent in the Indian population (3)(4)(5)(6)(7). In this report we describe an additional novel 26 bp deletion in exon 1 of the β-globin gene, found in a family from Tamil Nadu state in Southern India.…”

mentioning

confidence: 75%

A Novel 26 bp Deletion [HBB: c.20_45del26bp] in Exon 1 of the β-Globin Gene Causing β-Thalassemia Major

et al. 2012

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Molecular characterization of β-thalassemia (β-thal) is essential in prevention and in understanding the biology of the disease. Deletion mutations are relatively uncommon in β-thal. In this report, we describe a novel 26 bp deletion from codon 6 to codon 14 in the β-globin in a consanguineous family from Tamil Nadu, India. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence, and consequently, a premature chain termination of translation due to the creation of a stop codon at the position of codon 21. The identification of this novel deletional mutation adds to the repertoire of β-thal mutations in India.

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“…Later the frequencies of these five common mutations in the Indian subcontinent were determined as 93.6% by Varawalla et al,14 91.8% by Verma et al,5 91.2% by Gupta et al,15 74.5% by Edison et al,9 87.5% by Nadkarni et al16 and 80.0% by Colah et al7…”

Section: Discussionmentioning

confidence: 99%

Genetic Heterogeneity of Beta Globin Mutations Among Asian-Indians and Importance in Genetic Counselling and Diagnosis

Kumar

Singh²,

Panigrahi³

et al. 2013

Mediterr J Hematol Infect Dis

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There are an estimated 45 million carriers of β-thalassemia trait and about 12,000–15,000 infants with β-thalassemia major are born every year in India. Thalassemia major constitutes a significant burden on the health care system. The burden of thalassemia major can be decreased by premarital screening and prenatal diagnosis. The success of prenatal diagnosis requires proper knowledge of spectrum of β-thalassemia mutations. In present study, β-thalassemia mutations were characterized in 300 thalassemia cases from 2007 to 2010 using ARMS-PCR and DNA sequencing. The five most common mutations accounted 78.9% of the studied chromosomes that includes IVS1-5(G>C), Cod 41-42(-TCTT), Cod8-9(+G), Cod16(−C) and 619bp del. Though IVS1-5(G>C) is most common mutation in all the communities, the percentage prevalence were calculated on sub caste basis and found that IVS1-5(G>C) percentage prevalence varied from 25 to 60 in Aroras & Khatris and Thakur respectively. Interestingly Cod41-42(−TCTT) mutation which is the second commonest among the mutations reported was totally absent in Kayasthas and Muslim community. These findings have implications for providing molecular diagnosis, genetic counseling and prenatal diagnosis to high risk couples of β-thalassemia.

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Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region‐wise heterogeneity

Cited by 38 publications

References 33 publications

Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes

Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes

A Novel 26 bp Deletion [HBB: c.20_45del26bp] in Exon 1 of the β-Globin Gene Causing β-Thalassemia Major

Genetic Heterogeneity of Beta Globin Mutations Among Asian-Indians and Importance in Genetic Counselling and Diagnosis

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