Hemoglobinopathies Project

Have a Question about Newborn Screening for Hemoglobinopathies?

Send an email via the button below to ask questions about newborn screening ​for hemoglobinopathies. Questions will be collated and posted anonymously with answers. Please indicate if this request should not be posted. APHL will not share names of those r​​equesting information unless specified to do so. Please indicate if this request is urgent in the subject line; otherwise, please expect a one week response.

​​​​Screening for Sickle Cell and Thalassemia​

Hemoglobinopathy screening programs, including newborn screening (NBS), identify which individuals have sickle c​ell 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 H​​emoglobinopathies Project​ ​​​​​Strengthens Lab Capacity to Respond to Blood Disorders​​

​​In 2013, APHL be​​gan working with the CDC Division of Blood Disor​ders (DBD) to help prevent and reduce complications of hemo​​globinopathies 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, APHL convened a Hemoglobinopathy Workgroup, which consists of Hemoglobinopathy screening experts from NBS programs throughout the United States, as well as partners from CDC. APHL and the Hemoglobinopathy Workgroup are building and enhancing the capacity of NBS 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 NBS staff and leadership. The Workgroup has also developed and administered a survey to assess the sc​ope of alpha thalassemia NBS in the US.​

Hemoglobinop​​athy Resources

Below you will find a number of resources developed by the Hemoglobinopathy Workgroup, as well as recordings of sessions from conferences.​​

Hemoglobinopathy Best Practices

Hemoglobinopathies: Current Practices for Screening, Confirmation, and Follow-up
This best practices document describes laboratory technology in state health laboratories, universities and community centers for screening, diagnosis, and follow-up for hemoglobinopathies. 

This document is complemented by the following training webinars:

• Module 1: Introduction, History, and Specimen Collection
  
  
• Module 2a: Hemoglobinopathy Screening Methods: Isoelectric Focusing (IEF), High Performance Liquid Chromatography (HPLC)
  
  
• Module 2b: Molecular Methods, Tandem Mass Spectrometry, Overall Method Advantages and Limitations
  
  
• Module 3: Screening and Reporting Algorithms, Quality Assurance, Follow-up
  

Use of Molecular Methods in Hemoglobinopathies Screening Webinar Series 

Use of Molecular Methods in Hemoglobinopathies Screening: The Clinician Perspective

Use of Molecular Methods in Hemoglobinopathies Screening: State Experiences

Transfusion Confusion Webinar

Transfusion Confusion – Identifying Newborns that Have Been Transfused and What to Do About It

Alpha Thalassemia Webinars

Alpha Thalassemia: Clinical Aspects

Alpha Thalassemia: Newborn Screening in the US

Beta Thalassemia Webinar

Clinical Presentation and Newborn Screening of Beta Thalassemia in the United States

APHL Newborn Screening Symposia

Detecting and Reporting Alpha Thalassemia In Newborns (2017 Oral Session)

Building and Enhancing Laboratory Capacity for Screening and Diagnosis of Hemoglobinopathies (2016 Oral Session)​​

Towards Uniformity in the Screening and Reporti ng of α- and β-Thalassemia: A Discussion of Current Variations in Practice in the Era of Clinical and Laboratory Standards Institute Guidelines (2020 Roundtable) 

Transfusion Confusion: Managing Its Impact on Screening Results (2021 Roundtable) 

Hemoglobinopathy Newborn Screening: Is It Time to Increase Molecular Testing? (2022 Roundtable) 

Supplemental Molecular Testing for Hemoglobinopathy Screening in the U.S.: Current patterns and Interest (2023 Poster)