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Genetic screening of newborns for sickle cell disease: correlation of DNA analysis with hemoglobin electrophoresis.

Author(s): Skogerboe KJ, West SF, Murillo MD, Glass MW, Shaunak S, Tait JF

Publication: Clin Chem, 1991, Vol. 37, Page 454-8

PubMed ID: 2004456 PubMed Review Paper? No

Purpose of Paper

Conclusion of Paper

Studies

1. Study Purpose

   The purpose of this study was to determine the effects of using DBS for PCR/dot blot analysis rather than using heparinized blood for cellulose acetate and citrate agar electrophoresis on the identification of sickle cell disease. PCR/dot blot anlaysis of the two specimen types was the results of a blind comparion.

   Summary of Findings:

   Results of Hb fraction analysis were agreeable between PCR/dot blot analysis and electrophoresis for 80 of 81 specimens. The authors attribute the sole discordance to electrophoretic problems distinguishing between similarly migrating Hbs. The intensity of the signal from Hb A and Hb S was reliably greater than that from Hb C. When hybridization of dot blot was at 43 degrees C instead of 55 degrees C, the Hb signal intensities were lower.

   Biospecimens

   • Bodily Fluid - Blood

   Preservative Types

   • Other Preservative
   • None (Fresh)

   Diagnoses:

   • Other diagnoses

   Platform:

   Analyte	Technology Platform
   DNA	PCR
   DNA	Dot blot or slot blot
   Protein	1D/2D gels

   Pre-analytical Factors:

   Classification	Pre-analytical Factor	Value(s)
   Biospecimen Preservation	Type of fixation/preservation	Air-dried None (fresh)
   PCR Specific	Technology platform	Cellulose acetate and citrate agar electrophoresis of hemoglobin
   Dot blot or slot blot Specific	Incubation temperature	43 degrees C 45 degrees C

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