Hb south Milwaukee [beta 105 (G7) Leu----Phe]: a newly-identified hemoglobin variant with high oxygen affinity.
Fifteen individuals among four generations of a family of English ancestry demonstrated elevated hemoglobin levels accompanied by leftward-shifted whole blood oxygen equilibrium curves. Five of the affected family members have required phlebotomies for relief of symptoms attributable to erythrocytosis. An abnormal hemoglobin or globin chain could not be isolated, but 43% of the beta chains of the affected individuals contained a Leu----Phe substitution at position 105 (G7). Oxygen equilibrium curves demonstrated a normal Bohr effect but decreased cooperativity.
Honig
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GR
Department of Pediatrics, University of Illinois College of Medicine, Chicago 60612.
Vida
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LN
Latorraca
R
R
Divgi
A B
AB
D000328:Adult; D000595:Amino Acid Sequence; D001815:Bloodletting; D002637:Chest Pain / Q000628:therapy; D005260:Female; D006454:Hemoglobins / Q000032:analysis / Q000502:physiology; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D010100:Oxygen / Q000097:blood*; D010375:Pedigree
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C064789:hemoglobin South Milwaukee; D010100:Oxygen