Increased prevalence of false positive hemoglobinopathy newborn screening in premature infants

Tally Hustace, Jay M. Fleisher, Ana Milena Sanchez Varela, Antonello Podda, Ofelia Alvarez

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Background: The objective was to investigate the specificity of the hemoglobinopathy newborn screening in premature neonates as compared to term neonates. Procedure: The screening results from infants suspected to have hemoglobinopathy disease identified by the Florida Newborn Screening Program for years 2002-2007 were compared to the corresponding confirmatory testing. The risks for false positives for preterm and full term newborns were calculated by Chi-square or the Cochran-Armitage test for trend. Isoelectric focusing and HPLC were the methods of hemoglobin screening. Results: Over 2,300 neonates (1/576 neonates born in Florida) were suspected to have hemoglobinopathy. The most common abnormal pattern in term and preterm infants (gestational age 22-36 weeks) suggesting disease at screening was FS. Overall, 93% of the children who screened positive for FCA and 64% of infants identified with FSA were later confirmed with trait. FSC was confirmed in 96% of the cases in both preterm and term infants. Compared to term newborns, preterm newborns were more likely to have a false positive result for FS or FC at screening. Twenty-three percent of preterms with FS and 59% of preterms with FC were diagnosed as traits by confirmatory testing, compared to only 2% and 6% for term infants (P<0.001). Conclusions: As compared to term newborns, more preterm newborns with trait were misidentified as having sickle cell anemia or hemoglobin C at screening. We speculate that abnormal hemoglobins may precede the development of hemoglobin A during fetal life.

Original languageEnglish (US)
Pages (from-to)1039-1043
Number of pages5
JournalPediatric Blood and Cancer
Issue number6
StatePublished - Dec 1 2011


  • Hemoglobin
  • Newborn screening
  • Sickle cell disease
  • Sickle cell trait

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology


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