title: [Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].
abstract: 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.
authors.affiliation: Laboratoire d'hématologie, Hôpital St-Eloi, CHU de Montpellier. p-martinez@chu-montpellier.fr
authors.forename: Patricia
authors.initials: P
authors.lastname: Aguilar-Martinez
authors.forename: Catherine
authors.initials: C
authors.lastname: Badens
authors.forename: Nathalie
authors.initials: N
authors.lastname: Bonello-Palot
authors.forename: Estelle
authors.initials: E
authors.lastname: Cadet
authors.forename: Nathalie
authors.initials: N
authors.lastname: Couque
authors.forename: Rolande
authors.initials: R
authors.lastname: Ducrocq
authors.forename: Jacques
authors.initials: J
authors.lastname: Elion
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Serge
authors.initials: S
authors.lastname: Pissard
authors.forename: Jacques
authors.initials: J
authors.lastname: Rochette
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005315:Fetal Diseases / Q000235:genetics; D005319:Fetal Hemoglobin / Q000235:genetics; D014644:Genetic Variation; D005838:Genotype; D006441:Hemoglobin A / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics / Q000302:isolation & purification; D006801:Humans; D010641:Phenotype; D012016:Reference Values; D017085:alpha-Thalassemia / Q000175:diagnosis
chemical_list: D006451:Hemoglobin, Sickle; D006454:Hemoglobins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin