[Hemoglobin J Amiens beta 17 (A 14) Lys replaced by Asn. Coincidence of a functionally silent new abnormal hemoglobin and a polycythemia vera (author's transl)].
A new abnormal hemoglobin, Hb J Amiens beta 17 (A 14) Lys replaced by Asn, has been discovered during the exploration of a recent polycythemia in a 65-year-old patient of Spanish extraction. Oxygen affinity of washed red blood cells was found to be normal at pH 7.13 (P 50 = 30.0 mmHg, N = 29.5 +/- 1). Cooperativity is unchanged, and no instability was detected. From this study, it is concluded that there is no relation between this functionally silent hemoglobin and the polycythemia. In fact, the recent appearance of the polycythemia, the involvement of the other blood cell lines, particularly the thrombocytosis, the high score of leukocyte alkaline phosphatases, and the results of the bone marrow biopsy led to the diagnosis of polycythemia vera.
D000368:Aged; D000409:Alanine; D000469:Alkaline Phosphatase / Q000097:blood; D001853:Bone Marrow / Q000473:pathology; D005260:Female; D006448:Hemoglobin J; D006455:Hemoglobins, Abnormal; D006801:Humans; D008239:Lysine; D010100:Oxygen / Q000097:blood; D011087:Polycythemia Vera / Q000097:blood*; D013922:Thrombocytosis / Q000097:blood
D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J; D000469:Alkaline Phosphatase; D008239:Lysine; D000409:Alanine; D010100:Oxygen
Hémoglobine J Amiens beta 17 (A 14) Lys replaced by Asn. Coïncidence d'une nouvelle hémoglobine anormale sans retentissement fonctionnel et d'une polyglobulie primitive.