Abstract
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.
Highlights
Thalassemias are hereditary hemolytic anemias that stem from mutations altering the normal 1:1 ratio of alpha- to beta-globin chains, necessary for normal hemoglobin (Hb) A
All reporting programs perform some form of screening for beta-thalassemia
Neonatal Screen. 2021, 7, 83 ods, 25 (68%) use isoelectric focusing (IEF) followed by high performance liquid chromatography (HPLC); eight (22%) use HPLC followed by IEF; and four
Summary
Thalassemias are hereditary hemolytic anemias that stem from mutations altering the normal 1:1 ratio of alpha- to beta-globin chains, necessary for normal hemoglobin (Hb) A assembly, resulting in microcytosis and anemia. Almost 300 beta-thalassemia mutations of varying severity that can occur on one or both alleles have been described. This results in a continuum of phenotypes from clinically insignificant to the total absence of gene expression and severe disease. The anemia and resulting ineffective erythropoiesis of beta-thalassemia can vary from mild laboratory abnormalities with no impact on morbidity to transfusion dependence as well as severe and life-threatening complications, including growth delays, boney abnormalities and deformities, splenomegaly, iron overload and the resultant liver, heart and endocrine tissue damage, and an increased thromboembolic risk, among other complications. Individuals with beta-thalassemia major, a severe transfusion-dependent hemolytic anemia, may experience irreversible bone and organ damage and the sequalae of iron overload if untreated [1]. Compound heterozygote states of a beta-thalassemia allele with a hemoglobin variant that results in reduced beta-globin synthesis, such as Hb E/beta0 thalassemia, can lead to a transfusion-dependent thalassemia-major phenotype
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