Study Finds Methods for Alpha-Thalassemia Screening and Reporting Vary Across Newborn Screening Programs

Thalassemia is an inherited (passed from parents to child) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. There are two “types” of thalassemia: alpha or beta, each referring to a specific part of hemoglobin that isn’t being made. If either the alpha or beta part is not made, there aren’t enough building blocks to make normal amounts of hemoglobin. Low alpha is called alpha-thalassemia. Low beta is called beta-thalassemia. This study is about current screening practices to detect alpha-thalassemia.

Alpha-thalassemia can cause moderate-to-severe health problems, such as anemia, growth delays, and hemolysis (a breakdown of red blood cells), and some people with alpha-thalassemia may require chronic blood transfusions. Alpha-thalassemia is more common among people from Laos and Cambodia, but is also commonly found among people from China, Vietnam, Thailand, the Philippines, the Mediterranean, Africa, and people with Middle Eastern ancestry.

In the United States, state newborn screening (NBS) programs identify conditions that can affect a child’s long-term health or survival. While alpha-thalassemia can affect a child’s quality of life, it is not a condition included on the United States Recommended Uniform Screening Panel (RUSP)external icon for state NBS programs. However, sickle cell disease is included in the RUSP, and the methods used by some states to identify sickle cell disease also identify a marker of alpha-thalassemia.

About This Study

In October 2016, the Association of Public Health Laboratories’ (APHL) Hemoglobinopathy Workgroup emailed a survey to all 53 NBS programs in the United States to better understand alpha-thalassemia screening practices across the country. Questions covered the methods used for alpha-thalassemia testing, procedures for reporting results to families, and strategies for following up with families to make sure confirmatory tests were conducted and treatment options were available.

We invite you to read the full study here.

Main Findings From This Study

• 83% (n=44) of the 53 NBS programs responded to the survey.
• Among those that responded, about 9 of 10 (93% [n=41]) state NBS programs reported that they conduct alpha-thalassemia screening on newborn infants in their state.
• The survey found that among NBS programs who conduct alpha-thalassemia screening, there are a lot of differences in how states identify, define, and share results indicating an alpha-thalassemia diagnosis through NBS programs.
• Some state programs use more rigorous testing practices than others, and there are differences across states in what is considered a positive alpha-thalassemia screening result and how they are reported back to families. The majority report to NBS follow-up programs and providers, while parents are less likely to receive direct notification.

Future Directions

The survey findings highlight an opportunity for NBS programs to re-evaluate their screening practices, as well as their strategies for reporting screening results to families.

Developing more uniform alpha-thalassemia testing and reporting procedures for state NBS programs could help better our understanding of how many people are born with alpha-thalassemia in the United States. Future data can be used to better understand the effect of alpha-thalassemia on the health of Americans.