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Haemoglobinopathies in eastern Indian states: a demographic evaluation

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Abstract

Haemoglobinopathies are a leading cause of child mortality worldwide, although with a variable geographical incidence. A reliable estimate of prevalence of the disease is necessary for reducing its burden. However, most studies in India are either hospital based or from certain regions of the country and hence may not realistically reflect the disease burden. The eastern Indian states of Bihar, Chhattisgarh and Jharkhand and eastern region of Uttar Pradesh, which comprise ~25 % population of the country, are poorly studied with respect to haemoglobinopathies. The present study, conducted on 1,642 individuals from this region, shows a frequency of 3.4 % for β-thalassaemia trait (BTT), 3.4 % for sickle cell haemoglobin trait (HbS)/haemoglobin E trait (HbE) and 18 % for α-globin defects. While BTT mutations are distributed rather uniformly across the region, HbS occurs only in Chhattisgarh and Jharkhand, the regions rich in tribal populations. The frequency of α-gene mutation is strikingly high, occurring even in individuals with normal blood count, in tribal as well as non-tribal groups. The mutation spectrum of BTT is also distinct since the common mutations, IVS1-1 (G-T) and 619 bp del, are absent while CD15 (G-A) is the second most frequent. The HbA2 level in the suspected cases is strikingly low. We demonstrate association of the low HbA2 level with vitamin B12 and folate deficiency in this cohort. Thus, the present report besides providing an estimate of the carrier frequency of β-thalassaemia traits also confirms high prevalence of α-gene defects and regional heterogeneity in distribution of HbS in the eastern parts of India.

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Acknowledgments

The help extended by the medical teams of respective primary health centres in sample collection, both at the PHC and in the field, is gratefully acknowledged. Thanks are due to Krishna Kishore Sukla, Cytogenetics Laboratory, Department of Zoology, BHU for his help in sample collection, micronutrient estimation and statistical analysis. We heartily thank our colleagues, Profs. S. C. Lakhotia and Mercy J Raman, Department of Zoology, BHU for reading the text and tables of the manuscript and making critical suggestions for improving the language and content of the paper. We also record our appreciation of all the voluntary blood donors for their help and support. This work was supported by a research grant from the Council of Scientific and Industrial Research, New Delhi which is gratefully acknowledged.

Ethical standards

The work is approved by the Institutional ethical committee that complies with the current laws of the country.

Conflict of interest

The authors declare no conflict of interest.

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Authors and Affiliations

  1. Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India

    Rachana Nagar & Rajiva Raman

  2. Varanasi Regional Thalassemia Welfare Society, Varanasi, India

    Sujata Sinha

  3. Doon Government Hospital, Dehradun, Uttarakhand, India

    Sujata Sinha

Authors
  1. Rachana Nagar
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  2. Sujata Sinha
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  3. Rajiva Raman
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Corresponding author

Correspondence to Rajiva Raman.

Additional information

This work was done at Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

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Nagar, R., Sinha, S. & Raman, R. Haemoglobinopathies in eastern Indian states: a demographic evaluation. J Community Genet 6, 1–8 (2015). https://doi.org/10.1007/s12687-014-0195-z

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  • DOI: https://doi.org/10.1007/s12687-014-0195-z

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