Two unstable β chain variants associated with β-thalassemia: Hb Miami [β116(g18)his-→pro], and Hb Hershey [β70(E14)ala→gly], and a second unstable Hb variant at β70: Hb abington [β70(E14) ala→pro]

James D. Hoyer, Jason K. Baxter, Anna M. Moran, Kathleen S. Kubic, W. Christopher Ehmann

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

□ We report on three previously undescribed unstable hemoglobin (Hb) variants: Hb Miami, Hb Hershey and Hb Abington. Hb Miami was associated with a β+-thalassemia (thal) mutation [IVS-I-110 (G→A)], whereas Hb Hershey was associated with a β0-thal mutation [IVS-I-1 (G→A)]. Hb Hershey also has decreased oxygen affinity. These three Hb variants illustrate the range of clinical severity that can be seen with unstable Hb variants, particularly when combined with a thalassemic mutation.

Original languageEnglish (US)
Pages (from-to)241-248
Number of pages8
JournalHemoglobin
Volume29
Issue number4
DOIs
StatePublished - Nov 1 2005

All Science Journal Classification (ASJC) codes

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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