ISSN : 0975-9492


Open Access

This website is certified by Health On the Net Foundation. Click to verify.

This site complies with the HONcode standard for trustworthy health information:
verify here.


Title : Single nucleotide polymorphisms (SNPs) in causing β-thalassemia
Authors : R.S.Upendra, MananChamaria, LiptimayeeBehura
Keywords : Gene disease association, HBB gene, β-thalassemia, single nucleotide polymorphisms (SNPs).
Issue Date : Jan 2019
Abstract :
In a densely populated country like India, the most commonly inherited disorders are hemoglobinopathiesincludes β-thalassemia and sickle cell anemia. The root cause for these disorders can understand by studying the gene disease association of the beta globin gene (HBB) of Hemoglobin protein, any change in the expression of the HBB gene may lead to phenotypic changes known as hemoglobinopathies. One important reason for the variability in the expression pattern of the genes is due to change in the protein sequence caused by a type of mutations known as SNPs; mutations that can be defined as the change in the single nucleotide base pair that may or may not lead to a phenotypic change. Understanding of SNPs can help in identifying the cause of β-thalassemia; a blood disorder in which the production of hemoglobin reduces lead to the reduction in oxygen supply to various parts of the body. The present review paper offers the readers information about the various SNPs in the HBB gene that are responsible for the traits of β-thalassemia.
Page(s) : 60-70
ISSN : 0975-9492
Source : Vol. 10, No.1