title: [Qualitative and quantitative hemoglobin anomalies. Fundamental concepts, recent advances ].
abstract: The presence, in metropolitan France, of large foreign communities originating from Maghreb and from Black Africa, introduces hereditary haemoglobinopathies diagnosis in the routine work of the clinical laboratory. On the other hand, the sustained interest of the medical staff and of biologists arises principally from the dramatic progresses acquired since twenty years in the field of molecular anatomy and physiology of the oxygen carrier. Recent studies concerning human haemoglobin genes and their expression resulted in a new classification of haemoglobinopathies and in new possibilities in the prenatal diagnosis of these disease.
authors.affiliation: Université de Bordeaux II, Laboratoire de Biochimie Médicale.
authors.forename: E
authors.initials: E
authors.lastname: Neuzil
authors.forename: I
authors.initials: I
authors.lastname: Hombrados
mesh_terms: D001483:Base Sequence; D005091:Exons; D005602:France; D005786:Gene Expression Regulation; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics; D006801:Humans; D009154:Mutation
chemical_list: D006455:Hemoglobins, Abnormal
vernacular_title: Anomalies qualitatives et quantitatives des hémoglobines. Notions fondamentales, acquisitions récentes.