Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria.
Two abnormal hemoglobins were accidentally detected by cation exchange high performance liquid chromatography with the Diamat system of Bio-Rad Laboratories; the variants eluted together with the fast-moving Hb A1c. Structural analysis of isolated beta chains and sequence analysis of amplified DNA identified a new variant, i.e. Hb Graz that has a His-->Leu replacement at position 2 of the beta chain, in four healthy, apparently unrelated, adults. The second variant was identical to Hb Sherwood Forest or alpha 2 beta 2(104)(G6)Arg-->Thr; it is believed that this may be the second observation of this abnormal hemoglobin.
Liu
J S
JS
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Molchanova
T P
TP
Gu
L H
LH
Wilson
J B
JB
Hopmeier
P
P
Schnedl
W
W
Balaun
E
E
Krejs
G J
GJ
Huisman
T H
TH
D000595:Amino Acid Sequence; D001317:Austria / Q000453:epidemiology; D001483:Base Sequence; D014644:Genetic Variation / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010446:Peptide Fragments / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; C079327:hemoglobin Graz; C079325:hemoglobin Sherwood Forest