Sickle Cell Disease - Outlook

Diagnosis

Blood tests can determine whether an individual has sickle cell trait or sickle cell disease.

Screening Tests for Newborns

In the United States, hospitals routinely screen newborn babies for sickle cell disease. To perform the test, a blood sample is taken from the baby's heel using a simple needle prick. Early detection of sickle cell disease can help reduce the risk of life-threatening infections and increase the odds for survival. Babies who are diagnosed with sickle cell disease are given daily antibiotics to help prevent infections.

Prenatal diagnosis is also possible through amniocentesis. The amniotic fluid is tested for the presence of the sickle cell gene.

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Diagnostic Tests for Stroke

Unfortunately, no tests can definitely determine which children are at highest risk for a stroke and, therefore, would be candidates for ongoing blood transfusions. The following are diagnostic tools currently used or under investigation:

• Transcranial Doppler (TCD) ultrasonography measures the speed of blood flow in the brain. It can be used for identifying children at risk for stroke. However, high-risk children are still vulnerable to stroke even if the TCD screening diagnoses normal blood flow velocities.
• The use of follow-up magnetic resonance imaging (MRI) to detect small blockages in blood vessels may help confirm high risk in patients identified by TCD ultrasound.
• Some patients may need to undergo angiography, an invasive diagnostic technique useful for detecting aneurysms. (An aneurysm is a bulging in the blood vessel wall, which can result in stroke if it bursts in the brain.)
• Researchers are also beginning to uncover possible genetic markers that may eventually be used to help identify sickle cell patients at higher risk for stroke.

Review Date: 01/13/2011
Reviewed By: Harvey Simon, MD, Editor-in-Chief, Associate Professor of Medicine, Harvard Medical School; Physician, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).