Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia.
An Indian family is described in which the father has a delta chain abnormal hemoglobin which is the result of a mutation of the delta gene in cis to a beta-thalassemia heterozygosity. The abnormality concerns a substitution of the Asp residue in position 99 (G1) by an Asn residue. A similar substitution has been found in the beta chain of Hb Kempsey (alpha 2 beta 2 99 Asp replaced by Asn). The observed abnormality results in a greatly increased oxygen affinity of this newly discovered Hb A2 variant.
D000293:Adolescent; D000595:Amino Acid Sequence; D001215:Asparaginase; D001224:Aspartic Acid; D002170:Canada; D002648:Child; D005260:Female; D005973:Glutamine; D006441:Hemoglobin A / Q000235:genetics*; D006443:Hemoglobin A2 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010101:Oxygen Consumption; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D005973:Glutamine; D001224:Aspartic Acid; D006441:Hemoglobin A; D006443:Hemoglobin A2; D001215:Asparaginase