Sickle Cell Disease (Anemia)

Information about Sickle Cell Disease

Sickle Cell Disease is a disease that causes sickle-shaped blood cells in the body, which is abnormal because normally, red blood cells are round and flexible, which enables them to travel freely through the narrow blood vessels. It is disorder that affects the red blood cells, which use a protein called hemoglobin to transport oxygen from the lungs to the rest of the body. People with sickle cell disease have a mutation in a gene on chromosome 11. As a result, hemoglobin molecules don't form properly, causing red blood cells to be rigid and have a concave shape. These irregularly shaped cells get stuck in the blood vessels and are unable to transport oxygen effectively, causing pain and damage to the organs. Sickle cells are stiff and sticky. They block blood flow in the blood vessels of the limbs and organs. This can cause pain and organ damage. It can also raise the risk for infection.

Causes Sickle Cell Disease

Sickle cell anemia is an inherited disease. People who have the disease inherit two genes for sickle hemoglobin—one from each parent. This means that a child will not inherit the disease unless both parents pass down a defective copy of the gene. People who inherit one good copy of the gene and one mutated copy are carriers. When both parents have a normal gene and an abnormal gene, each child has a 25 percent chance of inheriting two normal genes; a 50 percent chance of inheriting one normal gene and one abnormal gene; and a 25 percent chance of inheriting two abnormal genes.

Symptoms of Sickle Cell Disease
Sickle cell disease prevents oxygen from reaching the spleen, liver, kidneys, lungs, heart, or other organs, causing a lot of damage. Without oxygen, the cells that make up these organs will begin to die. For example, the spleen is often destroyed in these patients resulting in some loss of immune function. As a result, these patients often experience frequent infections.The red blood cells of patients with sickle cell disease don't live as long as healthy red blood cells.  When sickle-shaped red blood cells get stuck in blood vessels this can cause episodes of pain called crises. Other symptoms include: delayed growth, strokes, and jaundice (yellowish hue to the skin and eyes because of liver damage). Because of these complications, people with this disorder are likely to have their life span reduced by about 30 years.

Treatment for Sickle Cell Disease
Babies and young children with sickle cell disease must take a daily dose of penicillin to prevent potentially deadly infections. Patients also take folic acid, which helps build new red blood cells. Doctors advise people with sickle cell disease to get plenty of rest, drink lots of water, and avoid too much physical activity.Acute chest syndrome is a severe and life-threatening complication of sickle cell anemia. If acute (sudden) failure of the liver and kidneys also occurs, it's called acute multiple organ failure. Treatment for these complications usually occurs in a hospital and may include oxygen therapy, blood transfusions, antibiotics, pain medicine, and balancing body fluids. People with more severe cases of the disease can be treated with a bone marrow transplant. This procedure provides the patient with healthy red blood cells from a donor, ideally from a sibling. Also,  blood and marrow stem cell transplants may offer a cure for a small number of people.

Source: 
http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell/
http://www.nhlbi.nih.gov/health/health-topics/topics/sca/causes.html