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].
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.
Hoyer
James D
JD
Department of Laboratory Medicine and Pathology, Mayo Clinic, 1020 Hilton Building, 200 First St. SW, Rochester, MN 55905, USA. jhoyer@mayo.edu
Baxter
Jason K
JK
Moran
Anna M
AM
Kubic
Kathleen S
KS
Ehmann
W Christopher
WC
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010100:Oxygen / Q000378:metabolism; D010641:Phenotype; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C508157:hemoglobin Abington; C508156:hemoglobin Hershey; C508155:hemoglobin Miami; D005914:Globins; D010100:Oxygen