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International Journal of Current Microbiology and Applied Sciences (IJCMAS)
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National Academy of Agricultural Sciences (NAAS)
NAAS Score: *5.38 (2020)
[Effective from January 1, 2020]
For more details click here

ICV 2018: 95.39
Index Copernicus ICI Journals Master List 2018 - IJCMAS--ICV 2018: 95.39
For more details click here

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PRINT ISSN : 2319-7692
Online ISSN : 2319-7706
Issues : 12 per year
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Editor-in-chief: Dr.M.Prakash
Index Copernicus ICV 2018: 95.39
NAAS RATING 2020: 5.38

Int.J.Curr.Microbiol.App.Sci.2016.5(7): 768-777
DOI: http://dx.doi.org/10.20546/ijcmas.2016.507.088


Prevalence of Thalassaemia Mutations in Sickle Cell Disease Population of Madhya Pradesh, Central India
M.P.S.S. Singh1,2, G. Sudhakar2 and S. Rajasubramaniam1*
1National Institute for Research in tribal health (Indian Council of Medical research),
Nagpur Road, Garha Post, Jabalpur-482003, Madhya Pradesh, India
2Department of Human Genetics, Andhra University, Visakhapatnam-530003,Andhra Pradesh, India
*Corresponding author
Abstract:

About one third of sickle cell anemia patients have coexisting alpha thalassemia and it is an important genetic determinant of hematologic severity in sickle-cell disease.  Alpha-thalassemia reduces polymerization of sickle hemoglobin in homozygous sickle cell disease. Present study aims to identify the prevalence of alpha and beta-thalassaemia mutations in the sickle cell disease subjects and its effect on red cell indices. A total of 300 samples of homozygous sickle cell anemia (SCA) and 60 of sickle-beta-thalassaemia (SBT) subjects in Madhya Pradesh were screened for thalassemia mutations. The -α3.7 and -α4.2 deletions of alpha thalassaemia and five common beta-thalassaemia mutations were characterized by PCR. The overall prevalence of alpha-thalassaemia was 41.3% in SCA and 35.0% in SBT while 40.2% in general (SCA+SBT). Heterozygous alpha-thalassaemia               (-a/aa) and -a3.7 deletions were predominant in the two categories (SCA and SBT). The tribal (ST) populations were found to have higher prevalence of alpha-thalassaemia (61.9% in SCA & 100% in SBT). Among beta-thalassemia mutations, IVS1-5 (G→C) was most common (80.0%) followed by Codon15 (G→A), Codon 8/9 (+G) and Codon41/42 (-TCTT). More than one third of sickle cell disease individuals tested in the study carried the a-deletions which can be used as the predictor of disease severity.


Keywords: Sickle cell disease, Alpha thalassaemia, Sickle beta thalassaemia,Madhya Pradesh, Central India
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How to cite this article:

Singh, M.P.S.S., G. Sudhakar and Rajasubramaniam, S.. 2016. Prevalence of Thalassaemia Mutations in Sickle Cell Disease Population of Madhya Pradesh, Central India.Int.J.Curr.Microbiol.App.Sci. 5(7): 768-777. doi: http://dx.doi.org/10.20546/ijcmas.2016.507.088