Connect with the Hemoglobinopathies Workgroup
We're here to help! Send us your questions about newborn screening for hemoglobinopathies.
Ask Us a QuestionHemoglobinopathies
Hemoglobinopathies—sickle c​ell disease and thalassemia—can be challenging to uniformly screen for, as methods differ by location and available resources. We work to strengthen laboratory capacity to respond to blood disorders by providing resources, training and technical assistance.
Questions?
Contact the Newborn Screening and Genetics team: [email protected]
Newborn Screening for Hemoglobinopathies
Screening for Sickle Cell and Thalassemia
Hemoglobinopathy screening programs, including newborn screening, identify which individuals have sickle cell disease (SCD) or thalassemia. These conditions can impact an individual's long-term health or survival. It is important to correctly screen for SCD and thalassemia to help patients and their families get connected to health care services, treatment and support groups to help manage the condition and improve long term health.
Hemoglobinopathy screening program methods differ by location and available resources. It is important that all programs have access to information about the conditions they screen for, the various technologies available to perform the screening, the ways screening results are reported to healthcare providers and families, and the impact that these conditions have on the health of the individuals in which they are identified.
APHL's Role
Strengthening Laboratory and Follow-up Capacity to Respond to Blood Disorders
In 2013, we began working with the US Centers for Disease Control and Prevention (CDC) Division of Blood Disorders to help prevent and reduce complications of hemoglobinopathies by providing public health technical assistance with screening activities, including needs assessments for laboratories and education of patients, caregivers and healthcare workers.
To inform and drive the project, we convened a Hemoglobinopathy Workgroup, which consists of hemoglobinopathy screening experts from newborn screening programs throughout the United States, as well as partners from CDC. Together, we are building and enhancing the capacity of newborn screening programs to better screen and report hemoglobinopathies, identifying training needs around screening and diagnosis of hemoglobinopathies, and providing training opportunities to meet these needs among laboratory staff and leadership. The Workgroup has also developed and administered a survey to assess the scope of alpha thalassemia newborn screening in the US.
Your Resources
Hemoglobinopathy Resources
Current Practices Guidance
This current practices document describes laboratory technology in state health laboratories, universities and community centers for screening, diagnosis and follow-up for hemoglobinopathies.
Guidance on screening and diagnostic methods for genetically transmitted blood disorders and overview of algorithms for testing, reporting and follow-up from US programs, with the goal of improving early detection. Second Edition.
Hemoglobinopathies Workgroup Webinars
Watch recordings of webinars hosted by the Hemoglobinopathy Workgroup:
- Approaches to Molecular Testing in Newborn Screening for Hemoglobinopathies
- Use of Molecular Methods in Hemoglobinopathies Screening: The Clinician Perspective
- Transfusion Confusion – Identifying Newborns that Have Been Transfused and What to Do About It
- Alpha Thalassemia: Clinical Aspects
- Clinical Presentation and Newborn Screening of Beta Thalassemia in the United States
Hemoglobinopathies Training Workshop
This four-day intensive workshop offers a comprehensive introduction to newborn screening for hemoglobinopathies. The course includes hands-on exercises on isoelectric focusing (IEF), high-performance liquid chromatography (HPLC) and capillary electrophoresis to reinforce the concepts covered in the workshop's lectures. More information, including application details and deadlines, will be released through the NewSTEPs listserv.