Beta-globin haplotypes from blood spots for follow-up of newborn hemoglobinopathy screening

Am J Hematol. 1997 Jan;54(1):76-8. doi: 10.1002/(sici)1096-8652(199701)54:1<76::aid-ajh12>3.0.co;2-8.

Abstract

The inheritance of sickle-cell anemia upon the background of the major beta-globin gene cluster haplotypes has been associated with differing risks for major organ failure, and more recently with response to hydroxyurea treatment. Early identification of beta-globin haplotypes in individuals with sickle-cell anemia may be a clinically useful prognostic factor for severity of disease expression. This report describes the use of whole-blood spots on filter papers from newborn hemoglobinopathy screening for beta-globin gene cluster haplotyping by the polymerase chain reaction.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Filtration
  • Globins / genetics*
  • Haplotypes
  • Hemoglobinopathies / diagnosis*
  • Humans
  • Infant, Newborn
  • Paper
  • Polymerase Chain Reaction / methods
  • Time Factors

Substances

  • Globins