Home|Journals Follow on Twitter| Subscribe to List

Directory for Medical Articles
 

Open Access

1



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

Hira Mubeen, Rubab Zahra Naqvi, Ammara Masood, Muhammad Waseem Shoaib, Shahid Raza.

Abstract
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.

Key words: Substitution, Sickle shaped, Hemoglobin, Evolutionary pathway



Share this Article


Advertisement
Progress in Orthopedic Science

SUBMIT YOUR ARTICLE NOW


ScopeMed.com
ScopeMed Home
Follow ScopeMed on Twitter
BiblioCAM
Author Tools
eJPort Journal Hosting
About ScopeMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Scopemed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
ScopeMed is a Database Service for Scientific Publications. Copyright ScopeMed Information Services.
Scopemed Buttons