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Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 4
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Original Article

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 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MinnesotaUSACorrespondence[email protected]
, M.D.,
Jason K. Baxter Department of Obstetrics and Gynecology, Thomas Jefferson University, Philadelphia, PennsylvaniaUSA
,
Anna M. Moran Department of Anatomic Pathology and Clinical Laboratory Medicine, Penn State Milton S. Hershey Medical Center, Hershey, PennsylvaniaUSA
,
Kathleen S. Kubic Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MinnesotaUSA
&
W. Christopher Ehmann Division of Hematology/Oncology, Penn State Milton S. Hershey Medical Center, Hershey, PennsylvaniaUSA
Pages 241-248 | Received 25 Mar 2005, Accepted 27 May 2005, Published online: 07 Jul 2009
 
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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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