Increased prevalence of false positive hemoglobinopathy newborn screening in premature infants

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

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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
Pages (from-to)1039-1043
Number of pages5
JournalPediatric Blood and Cancer
Volume57
Issue number6
DOIs
StatePublished - Dec 1 2011

Fingerprint

Hemoglobinopathies
Premature Infants
Newborn Infant
Hemoglobin C
Abnormal Hemoglobins
Hemoglobin A
Isoelectric Focusing
Sickle Cell Anemia
Gestational Age
Hemoglobins
High Pressure Liquid Chromatography

Keywords

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

ASJC Scopus subject areas

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

Cite this

Increased prevalence of false positive hemoglobinopathy newborn screening in premature infants. / Hustace, Tally; Fleisher, Jay M.; Sanchez Varela, Ana Milena; Podda, Antonello; Alvarez, Ofelia A.

In: Pediatric Blood and Cancer, Vol. 57, No. 6, 01.12.2011, p. 1039-1043.

Research output: Contribution to journalArticle

Hustace, Tally ; Fleisher, Jay M. ; Sanchez Varela, Ana Milena ; Podda, Antonello ; Alvarez, Ofelia A. / Increased prevalence of false positive hemoglobinopathy newborn screening in premature infants. In: Pediatric Blood and Cancer. 2011 ; Vol. 57, No. 6. pp. 1039-1043.
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