How is sickle cell disease diagnosed?
In addition to a complete medical history and physical examination, diagnostic procedures for sickle cell disease may include blood tests and other evaluations. Many states provide routine newborn screening blood tests in order to begin proper treatment as soon as possible. Early diagnosis is essential in providing proper preventative treatment for some of the devastating complications of the disease.
A hemoglobin electrophoresis is a blood test that can determine if a person is a carrier of a specific sickle cell trait or has any of the diseases associated with the sickle cell gene.
Treatment for sickle cell disease
Specific treatment for sickle cell disease will be determined by your physician based on:
- Your age, overall health and medical history.
- Extent of the disease.
- Your tolerance for specific medications, procedures or therapies.
- Expectations for the course of the disease.
- Your opinion or preference.
Early diagnosis and prevention of complications is critical in sickle cell disease treatment. Treatment may include:
- Pain medications – for sickle cell crises.
- Drinking plenty of water – eight to 10 glasses daily or receiving intravenous fluids to prevent and treat pain crises.
- Blood transfusions – for anemia and to prevent stroke. Transfusions also are used to dilute the HbS with normal hemoglobin to treat chronic pain, acute chest syndrome, splenic sequestration and other emergencies.
- Penicillin – to prevent infections.
- Folic acid – to help prevent severe anemia.
- Hydroxyurea – a medication that has been developed recently that may help reduce the frequency of pain crises and acute chest syndrome. It also may help decrease the need for frequent blood transfusions. The long-term effects of the medication, however, are unknown.
- Bone marrow transplant – has been effective in curing some persons with sickle cell disease; the decision to undergo this procedure is based on the severity of the disease and ability to find a suitable bone marrow donor. These decisions need to be discussed with your physician.