Molecular variants and clinical importance of<i>β</i>-thalassaemia traits found in the state of Orissa, India

Nishank, Sudhansu Sekhar; Ranjit, Manoranjan; Kar, Shantanu Kumar; Chhotray, G. P.

doi:10.1179/102453309x439845

Cited by 8 publications

(5 citation statements)

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“…The widespread distribution of the IVSI-5 (G>C) mutation in the sub-continent suggests a relatively ancient origin, especially given its reported high prevalence in indigenous tribal populations in India Nishank et al 2009). …”

Section: Discussionmentioning

confidence: 98%

“…The data for Sri Lanka were not geographically subdivided since prolonged civil unrest had resulted in marked under-representation of the Tamil and Muslim minorities in the northern and eastern parts of the country. The data on β-thalassaemia alleles in the population of India were based on the recent comprehensive meta-analysis by Sinha et al (2009) drawn from 17 studies reported between 1991 and 2009, supplemented by additional data from the East Indian state of Orissa (Nishank et al 2009). …”

Section: Methodsmentioning

confidence: 99%

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A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka

Black

Sinha²,

Agarwal

et al. 2010

J Community Genet

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Thalassaemia is a common and debilitating autosomal recessive disorder affecting many populations in South Asia. To date, efforts to create a regional profile of β-thalassaemia mutations have largely concentrated on the populations of India. The present study updates and expands an earlier profile of β-thalassaemia mutations in India, and incorporates comparable data from Pakistan and Sri Lanka. Despite limited data availability, clear patterns of historical and cultural population movements were observed relating to major β-thalassaemia mutations. The current regional mutation profiles of β-thalassaemia have been influenced by historical migrations into and from the Indian sub-continent, by the development and effects of Hindu, Buddhist, Muslim and Sikh religious traditions, and by the major mid-twentieth century population translocations that followed the Partition of India in 1947. Given the resultant genetic complexity revealed by the populations of India, Pakistan and Sri Lanka, to ensure optimum diagnostic efficiency and the delivery of appropriate care, it is important that screening and counselling programmes for β-thalassaemia mutations recognise the underlying patterns of population sub-division throughout the region.

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Section: Discussionmentioning

confidence: 98%

Section: Methodsmentioning

confidence: 99%

A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka

Black

Sinha²,

Agarwal

et al. 2010

J Community Genet

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“…Many studies have described the profile of β thalassaemia mutations in different parts of India. (Varawalla et al , 1991; Garewal et al , 1994; Verma et al , 1997; Agarwal et al , 2000; Vaz et al , 2000; Bandyopadyay et al , 2004; Edison et al , 2008; Sheth et al , 2008; Colah et al , 2009; Munshi et al , 2009; Nishank et al , 2009). However none of these studies have looked at the variations in the distribution of mutations within individual states, which is expected due to the ethnic diversity of the population.…”

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confidence: 99%

Epidemiology of β‐thalassaemia in Western India: mapping the frequencies and mutations in sub‐regions of Maharashtra and Gujarat

et al. 2010

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Summary Although the average frequency of β‐thalassaemia carriers in India is 3–4% and the prevalent mutations have been studied, no micromapping has been done. This is the first attempt to provide an accurate estimate of the frequencies of β‐thalassaemia and the expected annual births of homozygous children in different districts of Maharashtra and Gujarat in Western India as well as to determine the molecular heterogeneity in different sub‐regions in these states. A total of 18 651 individuals were screened for haemo‐globinopathies and mutations were characterized in 1334 β‐thalassaemia heterozygotes. There was an uneven distribution of the frequencies of β‐thalassaemia, varying from 1·0% to 6·0% and 0% to 9·5% in different districts of Maharasthra and Gujarat. The rate of homozygosity per 1000 births annually was 0·28 in Maharashtra and 0·39 in Gujarat. The three most prevalent β‐thalassaemia mutations in Maharashtra were IVS 1‐5(G→C), Codon 15(G→A) and Codon 30(G→C) (87·9%) while in Gujarat they were IVS 1‐5(G→C), 619 bp deletion and Codon 5(‐CT) (68·5%). These data will help to develop adequate programmes for control and care where they are most needed. They also emphasize the importance of subgroup micromapping for determining the health burden of a common genetic disease.

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“…Hb Monroe ( HBB :c.92G>C) was first detected among the Gond tribal community of Central India (Zone-2) where the interaction between α and β-globin chain variants has been demonstrated for influencing the disease severity (Gupta et al, 1991). It was earlier found from Northern part of India (Zone-1) including Uttar Pradesh, Haryana, Punjab; Western part (Zone-3) containing Gujarat, Maharastra and Eastern part (Zone-5) counting Orissa (Panigrahi et al, 2007; Nishank et al, 2009; Colah et al, 2010; Nagar et al, 2015; Nigam et al, 2017; Bakhle et al, 2018). A large scale demographic study done in different states of India revealed the overall frequency of this mutation in India is 2.6%.…”

Section: Resultsmentioning

confidence: 93%

Tracing the Indian Population Ancestry bycis-linked Mutations inHBBGene

Panja

Chowdhury

Basu

2021

Preprint

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BackgroundHuman left their genetic footprints during the time of migration throughout the different countries all over the world. Human evolution was studied through various markers. India is a country of rich heritage and cultural diversity. The modern Indian population is derived from two ancestral groups, viz.-Ancestral North Indians (ANI) and Ancestral South Indians (ASI).AimFinding out the migratory route of the modern Indian population by studying ‘cis’ acting mutations of human beta-globin (HBB) genes.Subjects and methodsA total of 120 thalassemia subjects were enrolled. DNA sequencing was done for mutation detection in the HBB gene. Some previous literature reviews were gone through for tracing mutations, all over the world and in the Indian subcontinent.ResultsNine thalassemia patients were found where HBB:c.92G>C and HBB:c.-92C>G mutations co-exist together in ‘cis’ condition. Only one patient had HBB:c.51delC and HBB:c.33C>A. The pedigree analysis confirmed the presence of these mutations in ‘cis’ condition and vertical transmission from one generation to the next. Literature reviews also reassure the co-existence of these mutations from different countries.ConclusionThe co-existence of these ‘cis’ acting mutations helps to point out the possible migratory route of ANI population after venturing out of Africa.

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Molecular variants and clinical importance ofβ-thalassaemia traits found in the state of Orissa, India

Cited by 8 publications

References 14 publications

A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka

A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka

Epidemiology of β‐thalassaemia in Western India: mapping the frequencies and mutations in sub‐regions of Maharashtra and Gujarat

Tracing the Indian Population Ancestry bycis-linked Mutations inHBBGene

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