Pathophysiology of Sickel Cell disease Research Paper

Pathophysiology of Sickel Cell disease - Research Paper Example It results from homozygosity for a mutation in the beta globin gene and is transmitted by autosomal recessive inheritance (Passarge, 2007). A single nucleotide polymorphism (SNP) occurs in the beta globin chain, which results in the substitution of the amino acid residue glutamine at position 6 for valine. An individual may have one such abnormal gene and another normal gene and is said to be heterozygous. When a couple that is heterozygous for HbS give birth to children, there is a likelihood of one or more of the children inheriting these HbS genes from each of the parents. When this happens, the child has both HbS genes and is said to be homozygous for HbS. This is when a child suffers from sickle cell disease. This disorder has potentially serious complications and early medication (prior to the development of symptoms) can advance morbidity and mortality. It affects hemoglobin, a protein that is part of red blood cells, which is responsible for oxygen transport. It is characterized by the presence of sickle cells in the bloodstream, which is also known as erythrocyte sickling. This causes difficulties in circulating red blood cells as the blood vessels get clogged and cause symptoms such as pain in the extremities (Gordon, 2000). This disorder develops within the first 2 years, and the symptoms can be traced back to two main phenomena which are hemolysis and clots. Hemolysis causes chronic anemia, jaundice, lack of growth and sexual maturation. The vascular occlusions cause crisis musculoskeletal pain, increase susceptibility to bacterial infections (S. pneumonia, K. pneumonia, Homophiles influenza, etc.), cerebral infarction, and renal impairment. As a consequence of the mutation, when the hemoglobin is deoxygenated, it spontaneously undergoes polymerization to form a crystalline gel. Each polymer is composed of longitudinal beams 14 of deoxy-Hb which are arranged to form a tactoid body, insoluble and rigid