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

doi:10.1080/03630260500307626

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

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	241-248
Number of pages	8
Journal	Hemoglobin
Volume	29
Issue number	4
DOIs	https://doi.org/10.1080/03630260500307626
State	Published - Nov 2005

Keywords

Hemolytic anemia
Unstable hemoglobin (Hb)
β-Thalassemia (thal)

ASJC Scopus subject areas

Genetics(clinical)
Biochemistry, medical
Hematology
Clinical Biochemistry

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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. et al.
In: Hemoglobin, Vol. 29, No. 4, 11.2005, p. 241-248.

Research output: Contribution to journal › Article › peer-review

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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 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.",

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year = "2005",

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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

Y1 - 2005/11

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 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.

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 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.

KW - Hemolytic anemia

KW - Unstable hemoglobin (Hb)

KW - β-Thalassemia (thal)

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DO - 10.1080/03630260500307626

M3 - Article

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SN - 0363-0269

VL - 29

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JO - Hemoglobin

JF - Hemoglobin

IS - 4

ER -

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

Keywords

ASJC Scopus subject areas

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