ABSTRACT

Sickle cell anaemia belongs to homozygous HbS (HbSS) type. This arises from a single point substitution of value for glutamine at position 6 in the beta globin chain. This reduces or lessens the red blood cells solubility, which causes polymerization and vaso-occlusion in the vasculature. The beta globin gene is located on the chromosomes short arm 11. Hemoglobin S (HbS) is created when two mutant beta globin subunits bind together. The lack of a polar amino acid at position 6 of the beta globin chain facilitates the non-covalent polymerization of Hemoglobin in low-oxygen environments, causing red blood cells to assume a sickle shape and losing their flexibility. Low oxygen tension in sickle cell disease causes red blood cells to sickle, and recurrent sickling episodes weaken the flexibility of the cell and harm the cell membrane. When the normal oxygen tension is restored, these cells are unable to revert to their original shape. Because of their rigidity, these blood cells cannot flex when passing through small capillaries, which causes ischemia and vascular obstruction. The illness’s true anaemia is brought on by haemolysis, or the spleen’s red cell destruction. People who have this disease have chronic anaemia, and those who have a normal adult haemoglobin genotype will not survive due to the malformation of their cells, which destroys the splenic cells. Keywords: Sickle cell disease; genetics; inheritance; etiology; pathophysiology; symptoms; diagnosis; complications; treatment; transplantation
Publication date: 01/05/2026

https://www.ijbpas.com/pdf/2026/May/MS_IJBPAS_2026_10159.pdf

Download PDF
https://doi.org/10.31032/IJBPAS/2026/15.5.10159