Sickle Cell Anemia in Adults - Research Paper Example

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Sickle Cell Anemia in Adults

The disease is autosomal recessive. The genetic defect is in the HbS gene (Meremikwu, 2009). HbS mutation arises from a mutation that substitutes thymine for adenine in the 6th codon of the gene of beta chain, GAG to GTG. This change leads to coding of valine instead of glutamate in the 6th position of Hb chain. This type of hemoglobin is known as HbS which polymerizes easily under certain circumstances and alters the morphology of RBCs. Homozygous disease is the most severe form (Meremikwu, 2009). Sickle cell disease is most common in individuals residing in  or originating from sub-Saharan Africa. It also affects individuals from Caribbean, Meditteranean, Asian and Middle-eastern origin. "About 60,000 people in the US[ and 10,000 in the UK suffer from the disease" (Meremikwu and Okomo, 2011). "Sickle cell disease (SCD), the most common inherited blood disorder in the United States, is caused by a mutation in the hemoglobin-beta gene found on chromosome 11" (Parsh, 2013).According to Aljiburi et al (2012), "Sickle cell disease (SCD) is the most common inherited blood disorder in England."Pathophysiology and Pathogenesis     The abnormality in sickle cell disease lies in the hemoglobin. The molecule is mutated and is known as HbS. When deoxygenated, the HbS molecules polymerize to form psuedocrystalline structures called tactoids. These distort the red cell membranes making them form a characteristic sickle cell appearance. Sickling of cells mainly occurs in regions of microvasculature where blood flow is sluggish. ...Show more

Summary

In the paper “Sickle Cell Anemia in Adults” the author examines sickle cell anemia which is a pathological condition that manifests in early infancy. The condition is associated with morbidity and mortality and many children succumb to its complications in childhood and adolescence.

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