Taking a Look at Sickle Cell Disease

777 WordsFeb 22, 20183 Pages
Introduction Sickle cell disease (SCD) is an autosomal recessive disease that is common in African Americans. This disease arises from a single base-pair substitution of thymine for adenine and this makes valine in its place of glutamine in the sixth position of the Beta-globin molecule. When this swap occurs in a homozygous state and this is the sickle cell disease. Clinical signs result from polymerization of the abnormal haemoglobin and the sickling of cells. (Thompson, 2010) The case study Bölke and Scherer carried out a study (2012) about 19 year old black man with a three year history of SCD who was taken to the hospital showing symptoms such as shortness of breath, severe abdominal and joint pain. Few days after leaving the hospital, a space-occupying epidural hematoma started to form, most likely cause thought to be by the expansion of hematopoietic tissue and disruption of the bony margins with bleeding into the epidural space. Even though he had been taken into emergency care, the teenager eventually died. Inheritance pattern In people of West African ancestry such as the man in the study typically have SCD/haemoglobin C disease. This is a type of SCD that results from the inheritance of one HbS gene through one gene for HbC and this type of SCD is the most common abnormal haemoglobin gene in West Africa. The inheritance pattern for SCD is not complicated because if both parents hold one abnormal gene, there is a 1 in 4 possibility that any offspring will

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