Pitfalls in newborn hemoglobinopathy screening: failure to detect beta(+)-thalassemia.


Journal Article

Although universal newborn screening can reliably identify all infants with sickle cell hemoglobinopathies, the initial screening result must not be considered the definitive diagnosis. We describe 23 infants whose screening phenotype was FS or FC but whose true phenotype included hemoglobin A, establishing a definitive diagnosis of hemoglobin S or hemoglobin C in combination with beta(+)-thalassemia. Higher than expected hemoglobin concentrations or lower than expected mean erythrocyte volumes should suggest concurrent beta(+)-thalassemia.

Full Text

Duke Authors

Cited Authors

  • Strickland, DK; Ware, RE; Kinney, TR

Published Date

  • August 1995

Published In

Volume / Issue

  • 127 / 2

Start / End Page

  • 304 - 308

PubMed ID

  • 7636661

Pubmed Central ID

  • 7636661

International Standard Serial Number (ISSN)

  • 0022-3476

Digital Object Identifier (DOI)

  • 10.1016/s0022-3476(95)70316-0


  • eng

Conference Location

  • United States