[A case of great instability of the hemoglobin: hemoglobin bicêtre (author's transl)].
The authors describe a new variant of unstable hemoglobin: hemoglobin Bicêtre, responsible for a severe hemolytic anemia in a young girl. This hemoglobin is characterized by the replacement of distal histidine (beta63 (E7)) by a proline, causing the molecule to be very unstable and very readily oxidized.
D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000209:etiology*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005602:France; D006366:Heinz Bodies; D006455:Hemoglobins, Abnormal; D006529:Hepatomegaly; D006801:Humans; D008855:Microscopy, Electron, Scanning; D009996:Osmotic Fragility; D012156:Reticulocytes / Q000648:ultrastructure; D013156:Splenectomy; D013163:Splenomegaly / Q000209:etiology; D013922:Thrombocytosis / Q000209:etiology
D006455:Hemoglobins, Abnormal
Un cas d'instabilité majeure de l'hémoglobine: l'hémoglobine Bicêtre