Sickle cell disease, also called sickle cell anemia, is an inherited disorder that disrupts the function of red blood cells. According to the Sickle Cell Disease Association of America, people affected with sickle cell disease have an abnormal form of hemoglobin in the cells, which causes the red blood cell to alter its shape. The cell takes on a sickle or crescent-moon shape, rather than the normal round shape of a healthy red blood cell. The altered shape keeps the cells from reaching all tissues in the body and eventually the affected tissue becomes damaged.
Symptoms
According to Mayo Clinic, symptoms of sickle cell disease usually begin at about four months of age. Symptoms include anemia; hand-foot syndrome, a condition in which the hands and feet swell; jaundice; recurrent infections; a delay in growth; vision difficulties; and pain in the chest, stomach, joints and bones. These episodes of pain in sickle cell disease are so intense that they are called "crises." Sickle cell patients should immediately notify a health care provider if the following symptoms occur: signs of stroke, such as paralysis on one side of the body; swelling in hands or feet; stomach swelling; high temperature; pale nail beds or skin; and yellowing of the skin or the whites of the eyes.
Causes
The Mayo Clinic explains that a mutation or deformity in an inherited gene causes sickle cell disease. This gene instructs the body to make hemoglobin, a substance high in iron that gives blood its red color. Hemoglobin carries oxygen and carbon dioxide to the lungs. Patients with sickle cell trait have one normal hemoglobin gene, hemoglobin A, and one defective gene, hemoglobin S, which means they do not suffer from the disease but can pass it to their children. Someone with sickle cell disease receives a mutated gene from both his mother and father.
Complications
According to the Sickle Cell Disease Association of America, sickle-shaped cells do not survive long in the body. These cells are quickly destroyed, resulting in complications such as anemia; jaundice or dysfunction of the liver; and gallstones. Other medical problems include lung damage, pain, stroke, prolonged painful erection, spleen and kidney damage and infections.
Treatment
There is no cure for sickle cell disease. The Sickle Cell Disease Association of America states that treatment includes maintaining good health and treating complications. Early detection, antibiotic treatment and required vaccinations help control the adverse effects of this disorder. Other treatment options include pain management, fluids by intravenous route, blood transfusions and surgery. Droxia, a medication approved by the U.S. Food and Drug administration, helps decrease the number of painful episodes and the need for blood transfusions in adult patients. A safe dose for children has not been established.
Diagnosis
Blood tests can determine the presence of hemoglobin S, according to Mayo Clinic. This test is routinely performed on newborns in the United States. If hemoglobin S is identified, health care providers will then determine if the patient is a carrier or if they have the disease.
