Aguilar-Martinez Patricia, Badens Catherine, Bonello-Palot Nathalie, Cadet Estelle, Couque Nathalie, Ducrocq Rolande, Elion Jacques, Francina Alain, Joly Philippe, Pissard Serge, Rochette Jacques
Laboratoire d'hématologie, Hôpital St-Eloi, CHU de Montpellier.
Ann Biol Clin (Paris). 2010 Jul-Aug;68(4):455-64. doi: 10.1684/abc.2010.0457.
The diagnosis of the main hemoglobinopathies (HbS, HbC, HbE, heterozygous beta-thalassemia) is easy for laboratories using Hb electrophoresis and/or cation-exchange high performance liquid chromatography (CE-HPLC) methods. However, the diagnosis of alpha-thalassemias and of rare Hb variants is much more complex. Six French laboratories, forming together the "Pathologie héréditaire de l'érythrocyte" network, routinely practice the molecular diagnosis of hemoglobinopathies. These laboratories have shared their experiences to propose flowcharts for the phenotypical diagnosis and the molecular characterization of the main hereditary Hb pathologies. These flowcharts are applicable to any single patient with an adult erythropïesis (more than two-years-old), that is to say after the fetal to adult (gamma>beta) Hb commutation, when the HbF level is stabilized.
对于采用血红蛋白电泳和/或阳离子交换高效液相色谱（CE-HPLC）方法的实验室而言，主要血红蛋白病（镰状血红蛋白、血红蛋白C、血红蛋白E、杂合子β地中海贫血）的诊断并不困难。然而，α地中海贫血和罕见血红蛋白变异体的诊断则要复杂得多。六个法国实验室共同组成了“红细胞遗传性疾病”网络，常规开展血红蛋白病的分子诊断。这些实验室分享了他们的经验，提出了主要遗传性血红蛋白病表型诊断和分子特征分析的流程图。这些流程图适用于任何具有成人红细胞生成（两岁以上）的个体，即在胎儿至成人（γ>β）血红蛋白转换之后，此时血红蛋白F水平已稳定。
