Center of Innovation in Personalized Medicine

Sickle Cell Anemia

What Is Sickle Cell Anemia?

Sickle cell anemia is a genetic disease of the red blood cells (RBCs). Normally RBCs are shaped like a disk. This gives them the flexibility to travel through even the smallest blood vessels. However, in people with sickle cell, the RBCs have an abnormal crescent shape. This makes them sticky and rigid. They can get trapped in small vessels and block blood from reaching different parts of the body. This can cause pain and tissue damage. Sickle cell anemia is an autosomal recessive condition. You need two copies of the gene to have the disease. If you have only one copy of the gene, you are said to have sickle cell trait. Sickle cell trait explains the geographic distribution of sickle cell disease.

Diagnosis:

A blood test can check for hemoglobin S — the defective form of hemoglobin that underlies sickle cell anemia. If the screening test is negative, there is no sickle cell gene present. If the screening test is positive, doctors will ask for further tests to determine whether one or two sickle cell genes are present. People who have one gene — sickle cell trait — have a small percentage of hemoglobin S. People with two genes — sickle cell anemia — have a much larger percentage of the defective hemoglobin.

Symptoms:

Symptoms of sickle cell anemia usually show up at a young age. They may appear in babies as early as 4 months old.
  • Anemia

    Anemia is a shortage of RBCs. Sickle cells are easily broken. This breaking apart of RBCs is called chronic hemolysis. RBCs generally live for about 120 days. Sickle cells live for a maximum of 10 to 20 days.
  • Hand-foot syndrome

    Hand-Foot Syndrome occurs when sickle-shaped RBCs block blood vessels in the hands or feet. This causes the hands and feet to swell. It can also cause leg ulcers. Swollen hands and feet are often the first sign of sickle cell anemia in babies.
  • Splenic Sequestration

    Splenic sequestration is a blockage of the splenic vessels by sickle cells. It causes acute, painful enlargement of the spleen.
  • Delayed Growth

    Delayed growth often occurs in people with sickle cell anemia. Children are generally shorter but regain their height by adulthood. Sexual maturation may also be delayed. This happens because sickle cell RBCs cannot supply enough oxygen and nutrients.

Treatment:

A number of different treatments are available for sickle cell anemia.
  • Antibioticslike penicillin used for children from 2 months of age to 5 years. They help prevent pneumonia in sickle cell patients.

  • Pain medication used to relieve the pain during a sickle crisis. You may need over-the-counter drugs or strong prescription pain medication like morphine.

  • Hydroxyurea helps to increase production of fetal hemoglobin. It may reduce the number of blood transfusions.

  • Immunizations can help prevent infections. Patients tend to have lower immunity.

  • Surgery may use to treat persistent painful erections.

  • Bone marrow transplant used to treat sickle cell anemia. Children younger than 16 years of age who have severe complications and have a matching donor are the best candidates.

  • Blood transfusions can also treat sickle cell anemia. Packed red cells removed from donated blood and given to patients. This improves transport of oxygen and nutrients.

  • Supplemental oxygen given through a mask. It makes breathing easier and improves oxygen levels in the blood.


Prevention:


Sickle cell anemia is an inherited disease. If you are worried that you might be a carrier, talk to a genetic counselor. This can help you understand possible treatments, preventive measures, and reproductive options. In addition, premarital tests are very important to screen the disease before it is inherited from parents to children.

Resources:

http://www.moh.gov.sa/
http://www.mayoclinic.org/


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Last Update 12/3/2014 10:08:22 AM