Overview
Sickle cell anemia is a genetic disorder that affects the shape and function of red blood cells. In individuals with sickle cell anemia, the red blood cells are abnormally shaped like sickles or crescent moons, rigid, and sticky, which can slow or block blood flow. This inherited condition is caused by a change in the gene that tells the body to make the iron-rich compound in red blood cells called hemoglobin. People with sickle cell anemia inherit two copies of the altered form of the gene, one from each parent, who both carry the sickle cell trait. Symptoms typically appear around 6 months of age and can include fatigue, episodes of pain, and a higher risk of infections. Sickle cell anemia does not have a cure, but treatments can help manage symptoms and prevent complications.
Understanding the disease
Symptoms
Symptoms of sickle cell anemia include anemia, episodes of pain, and various complications such as stroke, acute chest syndrome, pulmonary hypertension, and shortness of breath. These symptoms can vary from person to person and may change over time. If you or your child has symptoms of sickle cell anemia, it is important to seek medical attention promptly. Symptoms of stroke include one-sided paralysis or weakness in the face, arms or legs, confusion, difficulty walking or talking, sudden vision changes, unexplained numbness, and severe headache.
Risk Factors
Sickle cell anemia is caused by a change in the gene that tells the body to make the iron-rich compound in red blood cells called hemoglobin. Both mother and father must carry one copy of the sickle cell gene for a child to be affected. If only one parent passes the sickle cell gene, the child will have sickle cell trait but usually won't have symptoms. Sickle cell anemia most commonly affects people of African, Mediterranean, and Middle Eastern descent.
Development
Sickle cell anemia develops when both parents pass a sickle cell gene to their child. This gene alteration causes the red blood cells to become rigid, sticky, and misshapen, which can slow or block blood flow. If only one parent passes the sickle cell gene, the child will have the sickle cell trait but won't develop the full-blown disease. The sickle cell trait is usually asymptomatic, but carriers can pass the gene to their children. Sickle cell anemia most commonly affects people of African, Mediterranean, and Middle Eastern descent.
Assessment and Diagnosis
Triage
You should see a doctor right away if you or your child has symptoms of sickle cell anemia. Since children with sickle cell anemia are prone to infections, which can be life-threatening, seek prompt medical attention for a fever greater than 101.5 F (38.5 C). Additionally, seek emergency care for symptoms of stroke, which include one-sided paralysis or weakness in the face, arms, or legs, confusion, difficulty walking or talking, sudden vision changes, unexplained numbness, and severe headache.
Diagnosis
To diagnose sickle cell anemia, a blood test is performed to check for the form of hemoglobin that underlies the disease. In the United States, this blood test is part of routine newborn screening. For older children and adults, a blood sample is drawn from a vein in the arm, or from a finger or heel in young children and babies. The sample is then sent to a laboratory, where it's screened for the sickle cell form of hemoglobin. If the test indicates the presence of sickle cell anemia, further tests may be conducted to assess possible complications or to determine the severity of the condition.
Management and Treatment
Complications
Potential complications of sickle cell anemia include stroke, acute chest syndrome, pulmonary hypertension, gallstones, priapism, deep vein thrombosis, pregnancy complications, swelling of hands and feet, frequent infections, delayed growth or puberty, vision problems, organ damage, splenic sequestration, blindness, and leg ulcers.
Treatment
Treatment for sickle cell anemia typically involves managing symptoms, preventing complications, and addressing underlying causes. Some of the treatment options include:
- Medications: Pain relievers like acetaminophen or ibuprofen can help alleviate pain caused by sickle cell crisis. Hydroxyurea, a cancer drug, is also used to increase the production of fetal hemoglobin, which can reduce the symptoms of sickle cell anemia.
- Blood transfusions: Transfusions are used to increase the number of healthy red blood cells in the body, reducing the risk of complications and alleviating symptoms.
- Folic acid supplements and antibiotics: Taking folic acid supplements and antibiotics can help prevent infections and promote the production of healthy red blood cells.
- Hydration: Drinking plenty of water helps prevent dehydration, which can exacerbate sickle cell symptoms.
- Avoiding temperature extremes: Exposure to extreme temperatures can trigger sickle cell crises, so it's important to protect yourself from excessive heat or cold.
- Regular exercise: Engaging in regular physical activity, with your doctor's guidance, can help maintain overall health and well-being.
- Stem cell transplant: In some cases, a stem cell transplant may be an option to cure sickle cell anemia. It's crucial to work closely with a healthcare provider to develop an individualized treatment plan, as treatment options may vary depending on the severity of the condition and other factors.
Preparing for medical consultation
To prepare for an appointment for sickle cell anemia, make a list of your symptoms, key personal information, and questions to ask your healthcare provider. It's also helpful to bring a family member or friend along and to be aware of any pre-appointment restrictions. Write down any symptoms you're experiencing, key personal information, and a list of medications you're taking. This will help you make the most of your time with your doctor and ensure that you cover all the necessary information.