Newborn Screening For Hemoglobinopathies

Newborn screening (NBS) is a nationwide program to find babies born with certain health conditions, including thalassemia and other hemoglobinopathies. While diagnostic testing should be used to rule out or confirm a thalassemia/hemoglobin disorder diagnosis, NBS can help you and your health care providers take immediate steps in order to keep your child as healthy as possible.

The Importance of Early Diagnosis

Newborn screening is done in the first 2 or 3 days after birth. With early diagnosis, health care providers can help parents learn ways to keep their child as healthy as possible and delay or prevent health problems related to thalassemia. Many people with thalassemia lead healthy lives. However if not treated, it can cause serious health conditions like bone and heart problems.

How is Newborn Screening Done?

Newborn screening is done during the first few days of your baby's life—usually by a health care provider in the hospital. A few drops of blood from a heel prick are placed on a special card, called a Guthrie card.

This card with your baby's information is mailed to a special state laboratory that will test the blood sample for certain health conditions, including hemoglobinopathies. In Nevada, newborn screening involves two blood samples, first one between 24- 48 hours of age and second one between 10-14 days of age.

If your baby has a positive newborn screen for a hemoglobin disorder, his/her health care provider can test his/her blood for the condition. The blood test checks your baby’s red blood cells for size, color and shape. These things can help your provider know what kind of thalassemia your baby may have.

If you have thalassemia or a family history of thalassemia, talk to a genetic counselor to help you understand about how genes, birth defects and other medical conditions run in families, and how they can affect your health and your baby’s health.

Diagnosing thalassemia and other hemoglobinopathies is a multistep process. A complete diagnostic evaluation should include a newborn screening, blood testing, a genetic or carrier test and clinical evaluation at a Hemoglobin Center/Clinic.

Visit the following websites for more information:

• Cooley’s Anemia Foundation
• Thalassemia Support Foundation
• March of Dimes
• National Institutes of Health Genetics Home Reference

Hemoglobinopathy Centers in Nevada:

Children’s Specialty Center
3121 S Maryland Parkway # 300 and # 209
Las Vegas, NV 89109
Phone: (702) 732-1493
Fax: (702) 732-1080
http://cure4thekids.org

UCSF Benioff Children’s Cancer & Blood Diseases Center-Reno
5301 Reno Corporate Drive 505
Reno, NV 89511
Phone: (775) 683-9010
Fax: (775) 8274613
http://thalassemia.com