Haemoglobin Hallamshire (beta146 HIS --> TYR): a new high oxygen affinity haemoglobin responsible for familial erythrocytosis.
A new high oxygen affinity haemoglobin with the beta chain mutation beta146 HIS --> TYR is described. This variant was detected in a fit 34-year-old man with true erythrocytosis. The abnormal haemoglobin was identified as an extra band on cellulose acetate electrophoresis at pH 6.3 and was later confirmed by beta globin gene sequencing and oxygen dissociation studies. Whole blood containing Haemoglobin Hallamshire has a P50 of 18 mmHg. This newly described haemoglobin variant was also responsible for erythrocytosis in the mother and maternal half cousin of the index case. The identification of Haemoglobin Hallamshire provides confirmatory evidence of the important role of the C-terminal end of the chain in haemoglobin function.
Leach
M
M
Department of Haematology, Royal Hallamshire Hospital, Sheffield.
Greaves
M
M
Porter
N
N
Williamson
D
D
Brown
K
K
D000328:Adult; D001797:Blood Protein Electrophoresis; D005192:Family Health; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006639:Histidine / Q000235:genetics / Q000502:physiology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D010108:Oxyhemoglobins / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics; D011086:Polycythemia / Q000097:blood* / Q000235:genetics / Q000503:physiopathology; D014443:Tyrosine / Q000235:genetics / Q000502:physiology
D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; D014443:Tyrosine; D006639:Histidine