A Genetic Disorder: Sickle cell and it's cure

A Genetic Disorder: Sickle cell and it's cure
Author(s):
Dhande C., Mahalle S., Kshirsagar P., Hemke A., Umekar M., Mulla M, Chetna Dhande, Shivani Mahalle
Keywords:

Abstract
Sickle cell is a homozygous form of HbS (HbSS). Due to single base pair point mutation in the β globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β globin chain. The β globin gene is found on the short arm of chromosome 11. The association of two mutant β globin subunits form hemoglobin S (Hbs). Under low oxygen condition, the absence of a polar amino acid at the position of six of the β globin chain promotes the non-covalent polymerization of hemoglobin, which distorts red blood cells into cell sickle shape and decrease their elasticity. In sickle cell disease low oxygen tension promotes red blood cell sickling and repeated episodes of sickling damage the cell restored. The Actual anemia of the illness is caused by hemolysis the destruction of the red cell inside the spleen. Those suffering from this illness are present with chronic anaemia which those with normal adult haemoglobin genotype will not survive because of the misshape of the cells leading to the destruction of the cell at the spleen.
Article Details
Unique Paper ID: 160107 Publication Volume & Issue: Volume 9, Issue 12 Page(s): 1335 - 1341
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