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 Citations (Scopus)

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 β 0-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

Fingerprint

histidylproline
Thalassemia
Hemoglobins
Mutation
Oxygen
hemoglobin Abington
hemoglobin Hershey
hemoglobin Miami

All Science Journal Classification (ASJC) codes

  • Hematology
  • Biochemistry

Cite this

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title = "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]",
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 β 0-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.",
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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]. / Hoyer, James D.; Baxter, Jason K.; Moran, Anna M.; Kubic, Kathleen S.; Ehmann, W. Christopher.

In: Hemoglobin, Vol. 29, No. 4, 01.11.2005, p. 241-248.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Two unstable β chain variants associated with β-thalassemia

T2 - 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]

AU - Hoyer, James D.

AU - Baxter, Jason K.

AU - Moran, Anna M.

AU - Kubic, Kathleen S.

AU - Ehmann, W. Christopher

PY - 2005/11/1

Y1 - 2005/11/1

N2 - □ 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 β 0-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.

AB - □ 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 β 0-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.

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U2 - 10.1080/03630260500307626

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JF - Hemoglobin

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