Zittoun R, Galacteros F, Braconnier F, Soria J, Lebeau B, Bousser J, Rosa J
Ann Med Interne (Paris). 1981;132(4):225-8.
A new case of erythrocytosis associated with a high oxygen affinity hemoglobin is reported : the substitution of beta 99 of aspartic acid by glycine, characterized this abnormal hemoglobin, named "hemoglobin Hôtel-Dieu". An important associated smoking habit, probably responsible of an abnormal lung X-ray and of a disturbed CO transport, contributed to increase the difficulty of diagnosis. Familial inquiry, the search of an abnormal hemoglobin by standard or isoelectrofocusing electrophoresis, and the 2,3-DPG assay should be systematically performed in case of polycythemia in young people or in the absence of obvious aetiology. A corpuscular abnormality can be thus detected in about 10 p. cent of such polycythemias.
天冬氨酸β99被甘氨酸取代,这一异常血红蛋白被命名为“迪厄医院血红蛋白”。患者有严重的吸烟习惯,可能导致肺部X光异常和一氧化碳运输紊乱,增加了诊断难度。对于年轻人的红细胞增多症或病因不明的情况,应系统地进行家族调查、通过标准或等电聚焦电泳寻找异常血红蛋白以及2,3 -二磷酸甘油酸(2,3-DPG)检测。在这类红细胞增多症中,约10%的病例可检测到细胞异常。