Hb-Alberta or alpha2beta2 (101(G3) Glu replaced by Gly), a new high-oxygen-affinity hemoglobin variant causing erythrocytosis.
Hb-Alberta has been found in a 51 year old Caucasian male with erythrocytosis. The substitution in this variant involves the glutamyl residue in position 101(G3) of the beta chain which is replaced by a glycyl residue. Hb-Alberta accounts for about 45% in the heterozygote, and readily forms hybrid tetramers with other hemoglobins. The oxygen affinity of Hb-Alberta is greatly increased, its Bohr effect reduced, and its subunit interaction greatly diminished.
D000416:Alberta; D000596:Amino Acids / Q000032:analysis; D004592:Electrophoresis, Starch Gel; D014644:Genetic Variation; D005973:Glutamine / Q000097:blood; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000302:isolation & purification*; D006801:Humans; D008239:Lysine / Q000097:blood; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000097:blood; D011086:Polycythemia / Q000209:etiology*
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D005973:Glutamine; D008239:Lysine; D010100:Oxygen