Two unstable beta chain variants associated with beta-thalassemia: Hb Miami [beta116(G18)his-->Pro], and Hb Hershey [beta70(E14)Ala-->Gly], and a second unstable Hb variant at 170: Hb Abington [beta70(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 beta(+)-thalassemia (thal) mutation [IVS-I-110 (G-->A)], whereas Hb Hershey was associated with a B0-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.

• Authors: James D Hoyer, Jason K Baxter, Anna M Moran, Kathleen S Kubic, W Christopher Ehmann
• Journal: Hemoglobin (Hemoglobin) Vol. 29 Issue 4 Pg. 241-8 ( 2005) ISSN: 0363-0269 [Print] England
• PMID: 16370483 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Abington
• hemoglobin Hershey
• hemoglobin Miami
• Globins
• Oxygen

Topics

• Adult
• DNA Mutational Analysis
• Female
• Genetic Variation
• Globins (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Infant
• Male
• Middle Aged
• Mutation, Missense
• Oxygen (metabolism)
• Phenotype
• beta-Thalassemia (genetics)