Newborn Screening Practices for Beta-Thalassemia in the United States

International Journal of Neonatal Screening

卷:7

Jelili Ojodu¹  Careema Yusuf¹  Michael A. Bender²  Maria del Pilar Aguinaga³  Mary Hulihan⁴  Mary Christine Dorley⁵ 

[1] Association of Public Health Laboratories, Silver Spring, MD 20910, USA;

[2] Clinical Research Division, Department of Pediatrics, Fred Hutchinson Cancer Research Center, University of Washington, Seattle, WA 98109, USA;

[3] Department of Obstetrics and Gynecology, Meharry Medical College, Nashville, TN 37208, USA;

[4] National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Division of Blood Disorders, Atlanta, GA 30329, USA;

[5] Tennessee Department of Health Laboratory Services, Nashville, TN 37243, USA;

关键词: newborn screening;    beta thalassemia;    hemoglobinopathies;    isoelectric focusing;    high performance liquid chromatography;    harmonization;   

DOI  :  10.3390/ijns7040083

来源: DOAJ

【 摘 要 】

Beta-thalassemia, a heritable condition of abnormal hemoglobin production, is not a core condition on the United States Recommended Uniform Screening Panel (RUSP) for state and territorial newborn screening (NBS) programs. However, screening for sickle cell disease (which is on the core RUSP) also detects reduced or absent levels of hemoglobin (Hb) A and certain other Hb variants associated with beta-thalassemia and, thus, allows for a timely referral to appropriate healthcare to minimize sequalae of the disease. The Association of Public Health Laboratories’ Hemoglobinopathy Workgroup administered a comprehensive survey of all U.S. NBS programs to assess beta-thalassemia testing methodologies, the cutoffs for defining beta-thalassemia major, and the reporting and follow-up practices. Forty-six (87%) of the programs responded. Thirty-nine of the 46 responding programs (85%) report some form of suspected beta-thalassemia; however, the screening methods, the percentage of Hb A used as a cutoff for an indication of beta-thalassemia major, and the screening follow-up vary widely. The standardization of technical and reporting procedures may improve access to specialty care prior to severe complications, increase genetic counseling, and provide data needed to better understand the public health impact and clinical outcomes of beta-thalassemia in the United States.

【 授权许可】

Unknown