Strengthening Public Health Laboratories: Newborn Screening and Genetics – Hemoglobinopathies Project

In 2013, the Association of Public Health Laboratories’ (APHL’s) Newborn Screening and Genetics in Public Health Program and the Centers for Disease Control and Prevention’s (CDC’s) Division of Blood Disorders began working together on the Newborn Screening and Genetics – Hemoglobinopathies Project to help prevent and lower complications related to hemoglobinopathies, such as sickle cell disease (SCD) and thalassemia. ‘Hemoglobinopathies’ is the medical term for a group of blood disorders and diseases affecting red blood cells.

The Project provides public health technical assistance with screening (a test to look for a disease before it is noticeable) activities, including needs assessments for laboratories, as well as education for patients, caregivers, and healthcare workers on hemoglobinopathy screening programs.

Why is Hemoglobinopathy Screening Important?

Hemoglobinopathy screening programs, including newborn screening (NBS), identify which individuals have SCD or thalassemia. These conditions can influence an individual’s long-term health or survival. Correctly screening for SCD and thalassemia is important to help individuals and their families get connected to healthcare services, treatment, and support groups to help manage the condition and improve long-term health.

What is needed by Newborn Screening Programs to perform effective Hemoglobinopathy Screening?

Hemoglobinopathy screening programs can differ by location and available resources. However, it is important that all NBS programs

1. Have access to information about the conditions for which they screen;
2. Use the correct technologies to perform screenings;
3. Appropriately report screening results to healthcare providers and families; and
4. Understand the impact that these conditions have on individuals identified through NBS

How is the Newborn Screening and Genetics – Hemoglobinopathies Project Making a Difference?

Through this Project, the APHL Hemoglobinopathy Laboratory Workgroup was established. The Workgroup consists of hemoglobinopathy screening experts from NBS programs throughout the United States, as well as partners from the CDC’s Newborn Screening and Molecular Biology Branch of the National Center for Environmental Health and DBD.

The Workgroup has two strategies to improve hemoglobinopathy screening:

1. Building and enhancing the ability of NBS Programs to better screen and report hemoglobinopathies.
2. Identifying training needs around screening and diagnosis of hemoglobinopathies and providing training opportunities to meet these needs among laboratory staff and leadership.