Sickle Cell Anemia (Sickle Cell Disease)

Risk factors for sickle cell anemia include: Genetics: Children who inherit copies of the defective gene from both parents will have sickle cell anemia. Children who inherit only one copy of the gene will not have sickle cell disease, but will carry the trait.Race: Blacks of sub-Saharan originEthnicity: Greeks, Italians, and people from some parts of India, Central and South America, and the Arabian Peninsula SymptomsSickle cell anemia produces a group of symptoms known as a sickle cell crisis. These are episodes of pain that occur with varying frequency and severity, and are 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, such as illness, physical stress, or high altitudes.These painful crises can last hours to 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 intravenous fluids. Symptoms of impending sickle cell crisis include: Pain and swelling in the hands and feetFeverJaundiceAnemiaChest pain, or episodic pain in joints, abdomen, or backShortness of breathFatigueAbdominal swellingUnusual or prolonged headacheAny sudden weakness or loss of sensationPriapism (prolonged erection)Sudden vision changes Sudden, severe anemia can cause: WeaknessShortness of breathHeart failureShockLoss of consciousness Complications of sickle cell anemia include:

Destruction of the spleen Severe bacterial infections: PneumoniaMeningitisKidney and bone infectionsDamage to the joints (especially hip and shoulder)GallstonesDamage to eyes, resulting in impaired visionStroke or other neurological impairment SeizuresLiver disease High rate of hepatitis C Damage to penis, due to priapism (may result in impotence ) Leg ulcersHeart murmurs or enlarged heart Delayed growthDelayed sexual development Diagnosis Hemoglobin electrophoresis is a simple blood test that can be done by a doctor or local sickle cell foundation. Most states require testing of newborns for sickle cell disease or sickle cell trait. Amniocentesis (a form of prenatal testing) can also detect sickle cell disease. Treatment Basic treatment of sickle cell crisis includes: BedrestPain relief medicationsOral and intravenous fluidsOxygento reduce pain and prevent complicationsIn addition, treatment may include: PenicillinThe National Institutes of Health recommends that newborns with sickle cell disease take penicillin twice a day, beginning at age two months and continuing until at least five years of age.

Pneumococcal Vaccine The American Academy of Pediatrics recommends that children with sickle cell disease who are 2-5 years of age receive pneumococcal vaccine (PCV-7). Hydroxyurea Hydroxyurea (Hydrea) is a drug used to treat certain types of leukemia and other cancers. It is the first drug to significantly prevent complications of sickle cell disease. Hydroxyurea increases the production of fetal hemoglobin, which decreases the number of deformed red blood cells. Therefore, it reduces the frequency of sickle cell crisis. Hydrea is not appropriate for everyone with sickle cell disease. The US Food and Drug Administration (FDA) recommends that hydroxyurea be given only to patients over age 18 who have had at least three painful crises in the previous year. Blood TransfusionsBlood transfusions can treat and prevent some of the complications of sickle cell anemia. Regular transfusion therapy can help prevent recurring strokes in children. Bone Marrow Transplant A bone marrow transplant from a matched donor who doesn't have the sickle cell gene may be effective. There are medical risks involved, however, and recipients must take drugs that suppress the immune system for the rest of their lives.

Prevention Sickle cell anemia cannot be prevented because it is a genetic defect. However, there are some general guidelines that may keep the condition under control. Be sure to discuss these with your healthcare provider. Take daily folic acid supplements to build new red blood cells.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. RESOURCES: American Sickle Cell Anemia Associationhttp://www.ascaa.org Sickle Cell Information Centerhttp://www.scinfo.org CANADIAN RESOURCES: About Kids Healthhttp://www.aboutkidshealth.ca Sickle Cell Foundation of Albertahttp://www.sicklecellfoundationofalberta.org/about.htm References: Information Center for Sickle Cell and Thalassemiac Disorders. Harvard University website. Available at: sickle.bwh.harvard.edu/index.html . Accessed October 30, 2006. Mehanna AS. Sickle cell anemia and antisickling agents then and now. Curr Med Chem . 2001;8:79-88. Sickle cell anemia. National Institutes of Health website. Available at: http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html . Accessed October 30, 2006.

Last reviewed October 2007 by Mark A. Best, MD, MPH, MBA, FCAP, FASCPPlease be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.