Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp).
Polycythemia in a black woman was associated with hemoglobin Osler. In this hemoglobin the tyrosine at the penultimate position of the beta chain is replaced by aspartic acid. As a result oxygen affinity of the hemoglobin is very high, heme-heme interaction is absent, and the influence of hydrogen ion and 2,3 diphosphoglycerate on oxygen affinity is attenuated.
D000328:Adult; D001224:Aspartic Acid / Q000032:analysis; D001797:Blood Protein Electrophoresis; D002845:Chromatography; D005260:Female; D006453:Hemoglobinopathies / Q000150:complications* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000378:metabolism; D006801:Humans; D010100:Oxygen / Q000378:metabolism; D011087:Polycythemia Vera / Q000097:blood* / Q000209:etiology; D014443:Tyrosine / Q000032:analysis
D006455:Hemoglobins, Abnormal; D001224:Aspartic Acid; D014443:Tyrosine; D010100:Oxygen