Sickle Cell Disease

Sickle cell disease is an inherited disorder that affects red blood cells. People with sickle cell disease have red blood cells that become hard and pointed instead of soft and round. Sickle cells cause anemia, pain and many other problems. When sickle-shaped cells block small blood vessels, less blood can reach that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently no universal cure for sickle cell disease.

Sickle cell trait (SCT) is not a disease, but having it means that a person has inherited the sickle cell gene from one of his or her parents. People with SCT usually do not have any of the symptoms of sickle cell disease (SCD) and live a normal life. If you have sickle cell trait, you have inherited the gene for sickle cell disease. Sickle cell trait does not turn into sickle cell disease. If someone has sickle cell trait and his partner has sickle cell trait they may produce a child with sickle cell disease.

Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice and the formation of gallstones. The sickle cells also block the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain episodes (commonly in the arms, legs, chest and abdomen), stroke and priapism (painful prolonged and unwanted erection). It also causes damage to most organs including the spleen, kidneys, eyes and liver. Damage to the spleen makes sickle cell disease patients, especially young children, easily infected by certain bacteria. Therefore, any fever in someone with sickle cell disease must be taken very seriously.

Health maintenance for patients with sickle cell disease starts with early diagnosis, preferably in the newborn period and includes penicillin prophylaxis, vaccination against pneumococcus bacteria and folic acid supplementation. Treatment of complications often includes antibiotics, pain management, intravenous fluids, blood transfusion and surgery all backed by psychosocial support. Like all patients with chronic disease, patients are best managed in a comprehensive multi-disciplinary program of care.

Blood transfusions help benefit sickle cell disease patients by reducing recurrent pain crises, risk of stroke and other complications. Because red blood cells contain iron, and there is no natural way for the body to eliminate it, patients who receive repeated blood transfusions can accumulate iron in the body until it reaches toxic levels. It is important to remove excess iron from the body, because it can gather in the heart, liver, and other organs and may lead to serious organ damage and even death. Treatments are available to eliminate iron overload.

A single randomized clinical trial of 299 patients with SCD demonstrated that compared to placebo, hydroxyurea was associated with lower annual rates of pain crises, pain episodes of acute chest syndrome and need for transfusions. Hydroxyurea was first approved by the FDA for SCD in 1998 and is now available for adults and children with sickle cell anemia.

Patients with sickle-cell disease (SCD) receiving chronic transfusions of red blood cells are at risk of developing transfusional iron overload over time. This is characterized by an increase of labile plasma iron in the body, which can lead to functional impairment in vital organs including the liver, heart, pancreas, thyroid, pituitary gland, and other endocrine organs. Buildup can lead to hepatic cirrhosis, cardiomyopathy, diabetes mellitus, hypoparathyroidism, impaired growth, infertility, hypogonadism and even death. An agent that chelates iron is needed to get rid of excess iron; there are currently two agents available (one intravenous and one oral).