National Academy of Agricultural Sciences (NAAS)
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PRINT ISSN : 2319-7692
Online ISSN : 2319-7706 Issues : 12 per year Publisher : Excellent Publishers Email : editorijcmas@gmail.com / submit@ijcmas.com Editor-in-chief: Dr.M.Prakash Index Copernicus ICV 2018: 95.39 NAAS RATING 2020: 5.38 |
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.
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