Knowing Sickle Cell Anemia

Sickle cell disease (sickle cell disease / sickle cell anemia) is a hereditary disease characterized by red blood cells are crescent-shaped, rigid, and chronic hemolytic anemia. In sickle cell disease, red blood cells have hemoglobin (the protein that carries oxygen) that looks abnormal, thus reducing the amount of oxygen in the cell and causes the cell to be like a sickle shape. Sickle-shaped cells that will clog and damage the smallest blood vessels in the spleen, kidney, brain, bone, and other organs, and reduces the supply of oxygen to the organ. Sickle cell is fragile and will break at the time of passing the blood vessels, causing severe anemia, a blockage of blood flow, organ damage and even death.

Sickle cell anemia (SCA) is a recessive genetic disease, meaning that a person must inherit two carriers of the disease gene from both parents.This is what causes the disease is rare SCA. Someone who inherits only one gene will not show symptoms and only act as a carrier. If one parent has the gene sickle cell anemia and the other is a carrier, then there is 50% chance their children suffering from sickle cell anemia and 50% chance as a carrier.

SCA is caused due to mutation of β-globin chain of hemoglobin, which causes the exchange of glutamic acid (an amino acid) with hydrophobic amino acid valine at position 6. The genes responsible for causing SCA is an autosomal genes and can be found on chromosome number 11.Merger of two α-globin subunits with two subunits normal β-globin mutant form of hemoglobin S (HbS). On the condition of low oxygen levels, the absence of polar amino acid at position 6 of the β-globin chains causes the formation of non-covalent bonding in hemoglobin that causes changes in shape of red blood cells become sickle shape and lose elasticity.

Sickle cell anemia is almost exclusively against black people. About 10% of blacks in the U.S. has only 1 gene for this illness (they have sickle cell chain) and do not suffer from sickle cell disease. Approximately 0.3% had 2 gene and suffer from sickle cell disease.

Anemia, stomach pain and bone pain and nausea in a black skin is a typical sign for sickle cell crisis. On examination of blood samples under a microscope, can see red blood cells and the fraction of sickle-shaped red blood cells are destroyed. Electrophoresis can find the abnormal hemoglobin and indicate whether a person suffering from sickle cell disease or sickle cell only has a chain. The discovery of sickle cell chain is important for a family plan, namely to determine the risk of having children who suffer from sickle cell disease.

Sickle cell anemia is a genetic disease that can not be cured. In addition to bone marrow transplants, has not found a permanent treatment for this disease. But the transplant involves a complex procedure and not a therapeutic option. To be able to perform transplants, the patient should receive a suitable donor (usually obtained from family members who do not suffer from sickle cell anemia) with low risk of rejection by the body's reaction. However, there are real risks of this procedure and there is always the possibility of rejection by the body's organ transplant recipients.

However, without treatment even if a patient with SCA can still live a normal life. Treatment is simply to reduce the pain and the use of antibiotics to prevent dangerous infections caused by bacteria (such as sepsis / infections that occur in the blood, meningitis, and pneumonia) which can cause death in patients, especially infants. Hydroxyurea, which has been known as an antitumor drug turns out to also be used for therapy for people, especially in infants. Hydroxyurea increases the formation of a type of hemoglobin (mainly found in the fetus) that will reduce the number of red blood cells change shape into crescent. Therefore, these drugs reduce the frequency of sickle cell crisis and was also shown to reduce pain and prevent complications of the disease in children and adults.Further research was conducted to determine the safety and long-term effects of their use.

Currently being developed new treatments for the SCA, by gene therapy.Genetic therapy is the technique of planting a normal gene into precursor cells (cells that produce blood cells). However, this technique is still in research stage and only tested on mice. Although the researchers concerned about the difficulty of applying gene therapy in humans, they are confident that this new therapy will become an important treatment for the disease sickle cell anemia.