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

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

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

The DNA deletion associated with an example of (∈γδβ)° thalassemia (Scottish-Irish type) was characterized. The deletion is approximately 205 kb in length and involves the ∈, Gγ, Aγ, δ, and β globin genes. The breakpoint is located 263 bp 3′ to exon 3 of the β globin gene. An LI (Kpnl) 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 (∈γδβ)° thalassemia at this age.

Original languageEnglish (US)
Pages (from-to)2132-2138
Number of pages7
JournalBlood
Volume76
Issue number10
StatePublished - Nov 15 1990

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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