Sickle Cell Disease

Abnormal Newborn Screening Results and Additional Testing

If your baby’s newborn screening results are abnormal, your baby may need to have another test to confirm the screening result. It is important to have quick follow-up testing.  Without treatment, Sickle Cell Disease can result in harmful effects soon after birth.

The Utah Newborn Screening Program will contact you and your child’s pediatrician with follow-up recommendations.

The Hematology Clinic at Primary Children’s Hospital cares for babies diagnosed with Sickle Cell Disease.

About Sickle Cell Disease

Sickle Cell Disease (Hemoglobin SS Disease) is an inherited sickle cell disorder that affects the structure of red blood cells. Red blood cells are normally round and flexible, however, with sickle cell disease, the cells are rigid, sticky, and shaped like crescent-shaped moons (sickles). Because of this, oxygen is not carried adequately throughout the body. Common symptoms are anemia (low red blood cell count), frequent infections, delayed growth, vision problems, and episodes of pain. Treatment can help reduce these symptoms. Consultation with a hematology clinic is critical.

Hemoglobin SC Disease, SE Disease, and SD Disease are also types of sickle cell disorders. These disorders are caused by different mutations in the beta-globin gene. Symptoms are similar to Sickle Cell Disease but vary from person to person.

Sickle cell disorders are autosomal recessive conditions.  Meaning someone who inherits a sickle cell gene (Hb S) from each parent has a sickle cell disease. However, if they inherit one sickle cell gene from a parent and a normal hemoglobin gene from the other parent, then they have sickle cell trait. Someone with a sickle cell trait is typically an unaffected carrier. This same type of inheritance is what causes the other sickle cell disorders and traits.