ABNORMAL HEMOGLOBINS: LABORATORY METHODS

Henri Wajcman INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, Créteil, AP-HP 94010, France

Claude Préhu INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, Créteil, AP-HP 94010, France

Josiane Bardakdjian-Michau INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, Créteil, AP-HP 94010, France

Danielle Promé Institut de Chimie Moléculaire Paul Sabatier, Toulouse, Cedex 4, FR 1744 31062, France

Jean Riou INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, Créteil, AP-HP 94010, France

Christian Godart INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, Créteil, AP-HP 94010, France

Mireille Mathis INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, Créteil, AP-HP 94010, France

Didier Hurtrel INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, Créteil, AP-HP 94010, France

Frederic Galactéros INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, Créteil, AP-HP 94010, France

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Abstract

Laboratory methods allowing the detection and characterization of hemoglobin variants are reviewed. Protein chemistry techniques such as isoelectrofocusing, electrophoreses under various experimental conditions, cation exchange and reversed phase high performance liquid chromatography, are the most frequently used for the detection of variants. When associated with a few additional data they may lead to a presumptive diagnosis. DNA studies are also developed in many laboratories. Final identi(r)cation of a variant may be achieved either by molecular biology techniques or by protein sequence analysis in which mass spectrometry now occupies a key position.

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ABNORMAL HEMOGLOBINS: LABORATORY METHODS

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ABNORMAL HEMOGLOBINS: LABORATORY METHODS

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