Molecular and hematologic characterization of Scottish-Irish type (εγδβ)° thalassemia

R. J. Trent, B. G. Williams, A. Kearney, T. Wilkinson, P. C. Harris

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

The DNA deletion associated with an example of (εγδβ)° thalassemia (Scottish-Irish type) was characterized. The deletion is approximately 205 kb in length and involves the ε, Gγ, Aγ, δ, and β globin genes. The breakpoint is located 263 bp 3' to exon 3 of the β globin gene. An LI (KpnI) repeat element approximately 320 bp in size is found at the 3' end of the novel DNA sequence. Different clinical phenotypes for three heterozygous neonates suggest that the deletion alone does not predict severity of (εγδβ)° thalassemia at this age.

Original languageEnglish (US)
Pages (from-to)2132-2138
Number of pages7
JournalBlood
Volume76
Issue number10
StatePublished - Jan 1 1990

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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    Trent, R. J., Williams, B. G., Kearney, A., Wilkinson, T., & Harris, P. C. (1990). Molecular and hematologic characterization of Scottish-Irish type (εγδβ)° thalassemia. Blood, 76(10), 2132-2138.