Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA.
We have identified a valine-->methionine mutation at position 67 of the beta chain in the hemoglobin of a young Russian patient with severe hemolytic disease, anemia, splenomegaly, Heinz body formation, and continued requirement for blood transfusions despite an early splenectomy. Sequencing of amplified DNA readily identified a GTG-->ATG mutation at codon 67. The introduction of the larger methionine residue into the heme pocket, and the loss of the bonds between valine at beta 67 and the heme group, adequately account for the severe instability of Hb Alesha and the serious clinical condition of its carrier.
Molchanova
T P
TP
Laboratory of Protein Chemistry, Medical College of Georgia, Augusta 30912-2100.
Postnikov YuV
Pobedimskaya
D D
DD
Smetanina
N S
NS
Moschan
A A
AA
Kazanetz
E G
EG
Tokarev YuN
Huisman
T H
TH
D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D011487:Protein Conformation
D003062:Codon; D006455:Hemoglobins, Abnormal; C082233:hemoglobin Alesha; D005914:Globins