Sickle cell anemia is an autosomal recessive inherited disorder that affects red blood cells. The sickle cell gene inherited form both parents causes the production of structurally abnormal hemoglobin, clinical known as hemoglobin S, which cluster together, causing red blood cells to become rigid and develop a crescent shape. These sickled cells become trapped in small blood vessel and block them, reducing blood and oxygen flow in many parts of the body, and leading to tissue and organ damage.
The disease is caused by a point mutation substituting thymine for adenine in hemoglobin beta gene (HBB), which results in coding for valine rather than glutamate in the 6th position of the beta-globin chain. This genetic alteration results in changes in physical and chemical properties of hemoglobin cells, including shape, solubility and stability.
Under insufficient oxygen condition, the solubility of the sickle …show more content…
Infants and young children with the disease are given regular daily doses of penicillin to prevent serious infection. In some cases blood transfusions are given regularly to prevent organ damage and stroke and to relieve the worst symptoms of red blood cell loss. In severe cases bone marrow transplantation has been of some benefit. The drug hydroxyurea reduces the principal symptoms of sickle cell anemia. Hydroxyurea, an antitumor drug, induces the formation of fetal Hb normally found in the fetus or newborn by activating a gene. This type of hemoglobin, when present in individuals with SCA, prevents sickling. Hydroxyurea therapy increases the proportion of fetal hemoglobin in the bloodstream of adult patients from 1 to about 20 percent, a proportion high enough to lessen markedly the circulatory problems that arise during
The disease is caused by a point mutation substituting thymine for adenine in hemoglobin beta gene (HBB), which results in coding for valine rather than glutamate in the 6th position of the beta-globin chain. This genetic alteration results in changes in physical and chemical properties of hemoglobin cells, including shape, solubility and stability.
Under insufficient oxygen condition, the solubility of the sickle …show more content…
Infants and young children with the disease are given regular daily doses of penicillin to prevent serious infection. In some cases blood transfusions are given regularly to prevent organ damage and stroke and to relieve the worst symptoms of red blood cell loss. In severe cases bone marrow transplantation has been of some benefit. The drug hydroxyurea reduces the principal symptoms of sickle cell anemia. Hydroxyurea, an antitumor drug, induces the formation of fetal Hb normally found in the fetus or newborn by activating a gene. This type of hemoglobin, when present in individuals with SCA, prevents sickling. Hydroxyurea therapy increases the proportion of fetal hemoglobin in the bloodstream of adult patients from 1 to about 20 percent, a proportion high enough to lessen markedly the circulatory problems that arise during