Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies
Arbres décisionnels pour le diagnostic et la caractérisation moléculaire des hémoglobinopathies

Patricia Aguilar-Martinez, Catherine Badens, Nathalie Bonello-Palot, Estelle Cadet, Nathalie Couque, Rolande Ducrocq, Jacques Elion, Alain Francina, Philippe Joly, Serge Pissard, Jacques Rochette, Réseay DHOS Pathologie héréditaire de l'érythrocyte
Annales de Biologie Clinique  
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
more » ... se 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.
doi:10.1684/abc.2010.0457 pmid:20650741 fatcat:6jlxe4fa4ffsna3pvlf2s36kha