Abstract
Incidence of sickle cell trait in India is high in peninsular south, south-eastern, central and south-western India, while in north and north-eastern India, it is absent. Unicentric origin of SCD in the tribals of nilgiri hills in southern India has been proposed. The present study on the frequency of HbS trait and β-globin gene haplotypes was conducted in the tribal-rich states of Chhattisgarh and Jharkhand to get an insight into the uneven distribution of HbS in India. Jharkhand borders with the HbS-high Odisha and Chhattisgarh, and HbS-low UP, Bihar and Bengal. Cellulose acetate gel electrophoresis was performed on the collected blood samples, to detect sickle haemoglobin (HbS) followed by DNA analysis. HbS associated β-gene haplotype was constructed for the samples positive for HbS and all the tribals by PCR-RFLP. Out of 805 (Chhattisgarh – 261, Jharkhand – 544; >36% tribals) samples analysed HbS frequency was 13% in Chhattisgarh and 3.3% in Jharkhand. Within Jharkhand, frequencies varied considerably from 10% in Tatanagar to nil in Sahibganj. The Arab-India (AI) haplotype of β-globin cluster occurred in low frequency, confined mainly to Chhattisgarh. The most abundant haplotype in all the populations was the East Asian, + − − − − − +, rare in HbS, mainly in Sahibganj in east Jharkhand, which lacked AI. Our results indicate that besides the heterozygote advantage against malaria, the uneven regional distribution of HbS trait is because of restricted movement of two different populations, Dravidian from the south and Tibeto-Burman from the east into the Indian mainland which failed to meet, we conjecture, due to severe climatic conditions (deserts and heat) prevailing through parts of central India. Apparently, Jharkhand became a zone of contact between them in recent times.
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Acknowledgements
The help extended by the Medical teams of the Primary health Centres (PHC) for their assistance in sample collection both at the PHC and in the field is gratefully acknowledged. We sincerely acknowledge the help extended by Dr Sujata Sinha, BPS Pathology, Varanasi (currently at Doon Government Hospital, Dehradun), for her help in providing the space and instruments for conducting hematological experiments. We record our deep sense of appreciation for Dr Amit Chaurasia, Application Scientist from Premas, NGS facility, BHU, for his help with the Alrequin software in haplotype analysis. Dr Francesco Delgrande, Biodiversity and Climate Research Centre, Frankfurt, Germany, is thanked for helping us with DAPC analysis for the haplotype data. We also thank all the voluntary blood donors for their help and support. The authors acknowledge the financial support from CSIR, New Delhi, India. This works forms part of the contribution of the Disease Biology Thrust area under DBT-sponsored Interdisciplinary School of Life Sciences, BHU.
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Corresponding editor: Partha P Majumder
We dedicate this paper to Prof Tikaram Sharma, our mentor, on his 80th birth anniversary.
[Nagar R and Raman R 2015 Diversity of sickle cell trait in Jharkhand state in India: Is it the zone of contact between two geographically and ethnically distinct populations in India? J. Biosci. DOI 10.1007/s12038-015-9541-5
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Nagar, R., Raman, R. Diversity of sickle cell trait in Jharkhand state in India: Is it the zone of contact between two geographically and ethnically distinct populations in India?. J Biosci 40, 539–547 (2015). https://doi.org/10.1007/s12038-015-9541-5
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DOI: https://doi.org/10.1007/s12038-015-9541-5