Genetics of Sickle Cell Disease

Abstract

Hereditary blood disorders, such as Hemophilia, Thalassemia and Sickle Cell Disease are among the oldest genetic conditions in humans. Sickle Cell Disease is a genetic disorder, which affects the quality of a specific blood protein, hemoglobin. Hemoglobin is an oxygen carrying protein, found in red blood cells. It consists of four chains: two alpha chains and two beta chains. The integrity of all the four chains is important for proper function of hemoglobin. In sickle cell disease, a hereditary mutation leads to structural abnormality of either alpha or beta chains. The genetic mutation causing sickle cell occurs at the codon 6 of beta globin gene on chromosome 11. This mutation is a substitution of a hydrophobic valine residue for a hydrophilic glutamic acid residue. The new hemoglobin has altered solubility and reduced stability, and is called hemoglobin S (Hg S). Due to its instability, Hemoglobin S easily undergoes polymerization and this causes deformation of red blood cell membrane.

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• Pattern of inheritance for sickle cell disease
• Four genotypes that lead to the development of four clinically distinct types of sickle cell disease
• Genetic and clinical features of sickle cell anemia
• Genetic and clinical features of sickle cell trait
• Genetic and clinical features of sickle beta-thalassemia
• Genetic and clinical features of sickle cell disease
• Geographic distribution and historic prevalence of sickle cell diseases
• Proposed theory about the emergence of sickle cell gene
• Theory of evolutionary advantage of the sickle cell trait
• Treatment options

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