SICKLE CELL DISEASE Sickle cell anemia

DESCRIPTION The sickle cell disease is a disorder that affects the hemoglobin, a protein necessary for red blood cells to deliver oxygen to cells throughout the body. Mutations in the HBB gene on chromosome 11 cause the sickle cell disease. The HBB has the instructions for making beta-globin, which is a subunit of the hemoglobin.

The sickle cell disease is autosomal recessive, which means you need to have two copies of the sickle cell gene in order to have the disease. If you only have one copy of the sickle cell you are a carrier.

The mutation in the DNA slightly changes the shape of the hemoglobin molecule, allowing it to clump together, which gives it the “sickle-shape”.

SYMPTOMS The symptoms of the sickle cell disease vary. Some people have mild symptoms while others have it so severe that they need to be hospitalized. The most common symptom is fatigue. Sudden pain throught the body is also very common. Others include shortness of breath, dizziness, headaches, coldness in the hands and feet, paler then normal skin, jaundice (a yellowish color of the skin or whites of the eyes) Sometimes blindness could occur.

IS IT FATAL? A stroke may occur if the sickle cells block the blood flow to an area of your brain. This could sometimes be fatal. You can also have organ damage which can also be fatal. Skin ulcers can occur, which are open sores on your legs. The break down of red blood cells produces a substance call bilirubin, a high level bilirubin may lead to gallstones.

Treatment? Dialysis or kidney transplant if the kidney was affected. Counseling for psychological complication. Gallbladder removal in people with gallstones. Hip replacement for avascular necrosis of the hip. Surgery for eye problems. A blood and marrow stem cell transplant can work well. This can work as a cure for a small number of people. Research in gene therapy is currently underway.

Medication Antibiotics can help fight certain infections. Pain-relieving medications help relieve pain during a sickle crisis. Taking hydroxyurea daily reduces the frequency of painful crises and may reduce the need for blood transfusions. You may get more information about the sickle cell disease at MedlinePlus and Genetic and Rare Diseases Information Center.

Sources Genetics Home Reference DNA Learning Center National Heart, Lung, and Blood Institute Genetic Science Learning Center Mayo Clinic