Gene Sequencing and SNP Analysis of rs334 of Beta Hemoglobin involved in Sickle Cell Anemia

Author Name:
Author Email:


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

2) ria_basic_genetics_exercises_Ensembl.pdf

3) RK Saiki, S Scharf, F Faloona, KB Mullis, GT Horn, HA Erlich, N Arnheim : “Enzymatic amplification of beta-globin genomic sequences and restriction site

4) TJ Ley, J DeSimone, CT Noguchi, PH Turner,     AN  Schechter, P  Heller,  and AW  Nienhuis:  “5-

Azacytidine increases gamma-globin synthesis and

reduces the proportion of dense cells in patients with sickle cell anemia”  August 1, 1983; Blood: 62 (2)



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


18 total views, 0 views today

About the author: dev