High oxygen affinity hemoglobin variant in a Canadian family: Hb Bunbury [beta94(FG1)Asp-->Asn, GAC-->AAC].
We investigated a three-generation Canadian family in which individuals displayed varying degrees of erythrocytosis due to a high oxygen affinity beta chain hemoglobin (Hb) variant [Hb Bunbury, beta94(FG1)Asp-->Asn, GAC-->AAC]. This is the fourth reported case of Hb Bunbury.
Walker
Lynda
L
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Eng
Barry
B
McFarlane
Andrew
A
Waye
John S
JS
D000328:Adult; D002170:Canada; D005260:Female; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010108:Oxyhemoglobins / Q000378:metabolism*; D010375:Pedigree; D017354:Point Mutation; D011086:Polycythemia / Q000209:etiology*
D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; C039478:hemoglobin Bunbury; D005914:Globins