Sickle Cell Anemia is one of those diseases for which cure or treatment for complete eradication is not available till date. The patients with the disease suffer prom a peculiar shape of the RBC. The complication mostly involved are, breathing difficulties, Joint pains, arthritis, bone infarctions and severe infections. In order to develop a screening test for the prognosis of Sickle Cell Anemia, the molecular basis of the disease is studied. The objective of the work was to detect the Single Nucleotide Polymorphism in the beta hemoglobin gene corresponding to the rs334
A to T/G/C in db SNP. Samples were processed to extract the DNA which was further purified and subjected for Amplification using specific primers developed towards the Hemoglobin beta gene that can amplify the region including the SNP site. Based on the results of the sequencing the SNPs were identified and can thus be used in the future prognosis of the condition. The work can further be extended with more samples and extensive data analysis.
The term ‘Sickle Cell anemia’ was coined by Herrick who described it as “sickle shaped” because of its appearance in the RBCs of the patients characterized primarily by Chronic anaemia and periodic episodes of pains and presence of atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. (1) (2) Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. (3)The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications. (4).The red blood cells break down may cause yellowing of the eyes and skin which are the signs of jaundice. The stiff and inflexible sickled red blood cells get stuck in small blood vessels. (5)
Overall it can be concluded that the SNP has a
significance importance in the diseased conditions as most of them were having the presence of this SNP. However the absence of this SNP can not be overlooked in 6 diseased samples and hence a further study on wide range of sample is recommended.
analysis for diagnosis of sickle cell anemia”
Science 20 December 1985: Vol. 230
4) TJ Ley, J DeSimone, CT Noguchi, PH Turner, AN Schechter, P Heller, and AW Nienhuis: “5-
Azacytidine increases gamma-globin synthesis and
6) Jacob Hanna et al., “Treatment of Sickle Cell Anemia Mouse Model with iPS Cells Generated from Autologous Skin”, Published Online December 6 2007, Science 21 December 2007: Vol. 318
DOWNLOAD THE COMPLETE RESEARCH PAPER PDF
18 total views, 0 views today