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Descriptive profile of β-thalassemia mutations in West Bengal population: a hospital-based study

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Abstract

The present study was based in a hospital at which 660 individuals have been screened for thalassemia in the past 4 years. The main purposes of the study were to identify different types of beta mutations prevailing among these patients, and to establish a genotype–phenotypic correlation. Complete blood count, high-performance liquid chromatography, and amplification refractory mutation system-based polymerase chain reaction were performed on peripheral blood samples to detect beta mutations. Of the 660 subjects studied, 380 (57.6 %) were male and 280 (42.4 %) were female. These included 258 (39.09 %) normal individuals, 176 (26.67 %) β-thalassemia carriers, 44 (6.67 %) β-thalassemia major, 6 (0.91 %) cases of sickle β-thalassemia, 6 (0.91 %) carriers of sickle cell anemia, 102 (15.45 %) Hb Eβ-thalassemia, 42 (6.36 %) HbE carriers, 16 (2.42 %) HbE homozygous, and 10 (1.52 %) carriers of other mutations. Genotypic study of beta mutations revealed the prevalence of IVS1-5 mutation among the studied beta carriers to be 46.6 %, and codon 26 (G>A) mutation to be 31.54 %. Other prevailing mutations among the screened individuals include codon 30 (7.53 %), codon 15 (5.01 %), codon 41/42 (3.58 %), and codon 8/9 (1.07 %). Genotype–phenotype correlation revealed that the phenotype of the above-mentioned mutations is associated with mild, moderate, and severe forms of thalassemia.

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Acknowledgments

We are grateful to all the individuals who participated in this study. We would like to thank Mrs. Nabamita Pal and Mr. Priyabrata Das for their extensive support and all other staff members of research department. We wish to acknowledge West Bengal University of Health Sciences, Kolkata, India to which the institute is affiliated.

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Authors and Affiliations

  1. Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute, 16 A Park Lane, Kolkata, 700 016, West Bengal, India

    Deboshree M. Bhattacharyya & Jayasri Basak

  2. Department of Hemato-Oncology, Netaji Subhas Chandra Bose Cancer Research Institute, 16 A Park Lane, Kolkata, 700 016, West Bengal, India

    Ashis Mukhopadhyay

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  1. Deboshree M. Bhattacharyya
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  2. Ashis Mukhopadhyay
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Correspondence to Jayasri Basak.

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Bhattacharyya, D.M., Mukhopadhyay, A. & Basak, J. Descriptive profile of β-thalassemia mutations in West Bengal population: a hospital-based study. Int J Hematol 99, 345–353 (2014). https://doi.org/10.1007/s12185-014-1511-4

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