Publication:

In silico mutation analysis of human beta globin gene in sickle cell disease patients

Background Sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell conditions make a different form of hemoglobin a called hemoglobin S. Sickle cell conditions are inherited from parents in much the same way as blood type, hair color and texture, eye color and other physical traits. Sickle cell disease occurs due to a single mutation on the b-globin gene, namely, a substitution of glutamic acid for valine at position 6 of the b chain. Several mutations in HBB gene can cause sickle cell disease. Abnormal versions of beta-globin can distort red blood cells into a sickle shape. The sickle-shaped red blood cells die prematurely, which can lead to anemia. The study is focused on analysis of HBB gene with its different variants, Evolutionary pathways and protein domains by using various bioinformatics tools.

Methods The study is focused on analysis of HBB gene with its different variants, Evolutionary pathways and protein domains by using various bioinformatics tools.

Results Sickle cell disease occurs due to a single mutation on the b-globin gene, namely, a substitution of glutamic acid for valine at position 6 of the b chain. Several mutations in HBB gene can cause sickle cell disease. Abnormal versions of beta-globin can distort red blood cells into a sickle shape. Comparative study shown 38 different genes with little genetic variation among different species.

Conclusion Studies suggested that there is need to maintain a primary prevention program to detect sickle cell disease at earlier stages despite having a large high risk. Preventive diagnosis and follow-up would reduce infant mortality by preventing the development of severe anemia as well as dangerous complications. In short, sickle cell disease surveillance would avert loss of life, measured as the number of years lost due to ill-health, disability or early death.