Definition

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.

Causes

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.

Risk Factors

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.

Symptoms

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
• Fever
• Yellowed skin known as jaundice
• Pale skin color
• Chest pain, or episodic pain in joints, abdomen, or back
• Shortness of breath
• Fatigue
• Abdominal swelling
• Unusual or prolonged headache
• Any sudden weakness or loss of sensation
• Prolonged erection
• Sudden vision changes
• Sudden, severe anemia can cause:
  • Weakness
  • Shortness of breath
  • Loss of consciousness

Complications of sickle cell anemia include:

• Destruction of the spleen
• Severe bacterial infections:
  • Pneumonia
  • Meningitis
  • Kidney and bone infections
• Damage to the joints, especially hip and shoulder
• Gallstones
• Damage to eyes, resulting in impaired vision
• Stroke or other neurological impairment
• Seizures
• 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

Diagnosis

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.

Treatment

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:

Prevention

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.

Sickle Cell Information Center http://scinfo.org

Sickle Cell Foundation of Alberta http://www.sicklecellfoundationofalberta.org

Mehanna AS. Sickle Cell Anemia and Antisickling Agents then and now. Curr Med Chem. 2001;8:79-88.

Sickle cell disease in adults and adolescents. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed
Updated June 11, 2015. Accessed June 30, 2015.

Sickle cell disease. Kids Health—Nemours Foundation website. Available at:
http://kidshealth.org/parent/medical/heart/sickle_cell_anemia.html
Updated September 2012. Accessed June 30, 2015.

Sickle cell disease (SCD). Centers for Disease Control and Prevention website. Available at:
http://www.cdc.gov/ncbddd/sicklecell/index.html
Updated May 22, 2015. Accessed June 30, 2015.

Sickle Cell Disease. Family Doctor—American Academy of Family Physicians website. Available at:
http://familydoctor.org/familydoctor/en/diseases-conditions/sickle-cell-disease.html
Updated January 2011. Accessed June 30, 2015.

What is sickle cell anemia? National Heart, Lung, and Blood Institute website. Available at:
http://www.nhlbi.nih.gov/health/health-topics/topics/sca/
Updated June 12, 2015. Accessed June 30, 2015.

1/4/2011 DynaMed’s Systematic Literature Surveillance https://dynamed.ebscohost.com/about/about-us : Vichinsky EP, Neumayr LD, Gold JI, et al. Neuropsychological dysfunction and neuroimaging abnormalities in neurologically intact adults with sickle cell anemia. JAMA. 2010;303(18):1823-1831.