Sickle cell anemia is a genetic disorder. It alters the shape of the red blood cells (RBCs). This decreases their ability to carry oxygen. It can also cause acute episodes of pain. These are called a sickle cell crisis. The body will also destroy the sickle cells. The loss of RBCs results in anemia .
The change in the ability and number of RBCs can decrease the amount of oxygen for the body.
Sickle cell disease is a genetic disorder. If you receive 1 defective gene from each of your parents, then you will have sickle cell disease. If you only have 1 defective gene, you are said to have sickle cell trait, but not sickle cell disease. Although you won’t usually have any symptoms, you can pass this gene on to your children.
Sickle cell disease is more common in people who are black or of sub-Saharan origin. It is also more common in people of Greek and Italian descent as well as in people from some parts of India, Central and South America, and the Arabian Peninsula.
This condition produces a group of symptoms known as a sickle cell crisis. These are episodes of pain that occur with varying frequency and severity. It is usually followed by periods of remission. The risk for a sickle cell crisis increases with any activity that boosts the body's requirement for oxygen. This may include illness, physical or emotional stress, or high altitudes.
These painful crises can last hours or days. They affect the bones of the back, the long bones, and the chest. The crises can be severe enough to require hospital admission for pain control and IV fluids.
Symptoms of sickle cell crisis include:
- Pain and swelling in the hands and feet
- Yellowed skin known as jaundice
- Pale skin color
- Chest pain, or episodic pain in joints, abdomen, or back
- Shortness of breath
- Abdominal swelling
- Unusual or prolonged headache
- Any sudden weakness or loss of sensation
- Prolonged erection
- Sudden vision changes
Sudden, severe anemia can cause:
- Shortness of breath
- Loss of consciousness
Complications of sickle cell anemia include:
- Destruction of the spleen
- Severe bacterial infections:
- Damage to the joints, especially hip and shoulder
- Damage to eyes, resulting in impaired vision
- Stroke or other neurological impairment
- Liver disease
- High rate of hepatitis C
- Damage to penis, due to prolonged erection, which may result in impotence
- Leg ulcers
- Heart murmurs or enlarged heart
- Delayed growth
- Delayed sexual development
- Problems with thinking, memory, and performance
- Aplastic crisis or transient red cell aplasia
Hemoglobin electrophoresis is a simple blood test. It can be done by most laboratories or a local sickle cell foundation. Most states require testing of newborns for sickle cell.
Amniocentesis is a form of prenatal testing. It can also detect sickle cell disease.
Basic treatment of sickle cell crisis includes:
- Bed rest
- Pain relief medications
- Oral and IV fluids
- Oxygen—to reduce pain and prevent complications
In addition, treatment may include:
Newborns with sickle cell disease may be given penicillin . It is given twice a day, beginning at age 2 months. It is continued until at least 5 years of age.
It is recommended that children with sickle cell disease who are 2-5 years of age receive pneumococcal vaccine (PCV-7) . Other routine immunizations should also be given, such as an annual flu shot.
Hydroxyurea is the first drug to significantly prevent complications of sickle cell disease. It increases the production of fetal hemoglobin. This decreases the number of deformed RBCs. As a result, it reduces the frequency of sickle cell crisis. Hydrea is not appropriate for everyone with sickle cell disease.
Blood transfusions can treat and prevent some of the complications. Transfusion therapy can help prevent recurring strokes in children.
Bone Marrow Transplant
A bone marrow transplant from a matched donor may be effective. There are medical risks involved. Recipients must also take drugs that suppress the immune system for the rest of their lives.
Sickle cell anemia cannot be prevented. There are some general guidelines that may keep the condition under control. Be sure to discuss these with your doctor:
- Take daily folic acid supplements. This will help to build new RBCs.
- Drink plenty of water to prevent dehydration.
- Avoid temperature extremes.
- Avoid overexertion and stress.
- Get plenty of rest.
- Get regular check-ups with knowledgeable healthcare providers.
- Seek genetic counseling.
- Reviewer: Michael Woods, MD
- Review Date: 06/2015 -
- Update Date: 05/11/2013 -