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Story of an Alpha Thalassemia Baby


Diagnosis: Newborn Screening/blood test

Symptoms and Diagnosis
▶ Symptoms
▶ Diagnosis
   --newborn screening
▶ Untreated thalassemia
▶ Standard-of-Care Guidelines
▶ Standard-of-Care PDF

Newborn Screening

Newborn screening is a public health program designed to screen infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period. Newborn screening is recognized nationally as an essential preventive health care measure and all States in the nation and the District of Columbia have established programs. The State of California began its Newborn Screening program in 1966 with the testing for phenylketonuria (PKU). In 1990, screening for thalassemia major, E-beta thalassemia, and sickle cell disease was added to the State’s existing program. In 1999, the Program implemented screening for hemoglobin H and hemoglobin H - Constant Spring disease.

Babies are tested prior to leaving the hospital, by collecting a few drops of blood from the newborn's heel. The sample is sent to one of eight regional laboratories that contract with the State for testing. The laboratories enter demographic data and test results on terminals linked to the Genetic Disease Screening Program central computer in Richmond. This computer is programmed to detect and minimize data entry errors.

Positive test results are immediately telephoned to a follow-up coordinator at one of the Newborn Screening Area Service Centers throughout the State. The coordinator contacts the newborn's physician to arrange for repeat testing. If repeat testing determines that the baby has a disorder, the coordinator will supply the latest clinical information on diagnosis and treatment and assist with referrals to special care clinics such as Children’s Hospital Research Center Oakland.

For more information:

California Department of Public Health
http://www.cdph.ca.gov/programs/NBS/pages/default.aspx


Northern California Comprehensive Thalassemia Center
UCSF Benioff Children's Hospital Oakland
747 52nd Street, Oakland CA 94609   •   Phone: (510) 428-3651   •   Fax: (510) 450-5647
© 2003-2012 Children's Hospital & Research Center Oakland
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