Alpha Thalassemia Disorders

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 result. It is important to have quick follow-up testing. 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 Alpha Thalassemia.

About Alpha Thalassemia Disorders

Alpha Thalassemia occurs when the body is unable to produce alpha globin chains for hemoglobin.  Each person has four genes for alpha globin. When one or more of the alpha globin genes are absent or defective, this can cause either mild to severe symptoms of Alpha Thalassemia.

The different forms of Alpha Thalassemia include:

• 1 gene affected – Silent Carrier Alpha Thalassemia.  Since only one gene is affected, an individual should not have symptoms, however, when they begin their own family, they will want to consider having their partner tested since they may also be a carrier.
• 2 genes affected – Alpha Thalassemia Trait (minor).  May have small red blood cells (microcytosis) or less color in their red blood cells (hypochromia) with or without low blood count (anemia).  Patients should be tested for low iron levels before beginning treatment with iron supplements.
• 3 genes affected – Hb H Disease.  The severe form of Alpha Thalassemia. Requires treatment.  Most patients will have a low blood count requiring blood transfusions as well as an enlarged spleen.
• 4 genes affected – Hb Bart Syndrome.  The most severe form of Alpha Thalassemia and is not compatible with life.