Sickle Cell Anemia - Systemic Manifestations
Sickle cell anemia is an inherited blood disorder caused by the production of abnormal hemoglobin, which results in rigid, sickle-shaped red blood cells. These distorted cells can block blood vessels and impair circulation, leading to numerous systemic complications throughout the body. The condition is also associated with significant thrombotic complications due to chronic vascular injury and impaired blood flow. One of the best-known examples of a missense mutation is sickle cell disease. In this disorder, a single nucleotide change in the DNA sequence causes the amino acid glutamic acid to be replaced by valine in the hemoglobin protein. Although this alteration appears minor, it dramatically changes the structure and behavior of red blood cells, transforming them from flexible, disc-shaped cells into stiff, sickle-shaped cells. Organ Damage Seen in Sickle Cell Disease Skin Injury : Stasis ulcer Central Nervous System Injury : Cerebrovascular accident (stroke) Eye Injury : Retinal...