Balkan Journal of Medical Genetics

Hb CHAMPAGNE [β113(G15)Val->Leu]: A NEW NEUTRAL VARIANT
Wajcman H1, Riou J1, Promé D2, Richelme-David S2, Galactéros F1
*Corresponding Author: Dr. Henri Wajcman, INSERM U 468, Génétique Moléculaire et Physiopathologie, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, 94010 Créteil, France; Tel: +33-1-49-81-35-78; Fax: +33-1-48-99-33-45; E-mail: Henri.Wajcman@im3.inserm.fr
page: 23

MATERIALS AND METHODS

Hematological data were obtained by routine procedures. Electrophoretic analyses of Hb were done as previously described [2]. They involved isoelectrofocusing (IEF) on agarose and polyacrylamide gels, cellulose acetate electrophoresis at alkaline pH, and citrate agar gel electrophoresis, as well as globin chain electrophoresis on polyacrylamide gel in 6 M urea, at pH 6.0 and 9.0, and in presence of Triton X-100 urea triton polyacrylamide gel electrophoresis (UT-PAGE). Cation exchange high performance liquid chromatography (HPLC) was done using the VARIANTO system (Bio-Rad Laboratories, Hercules, CA, USA) with the b-Thalassemia Short Program provided by the manufacturer.

Globin chains were also analyzed by reversed phase HPLC using a Lichrospher 100 RP8 column from Merck (Darmstadt, Germany; ref. 50832001). For elution we used a 90-minute linear gradient of acetonitrile, methanol and NaCl at 45°C and a flowrate of 0.7 mL/min [3]. The structural abnormality was determined by protein chemistry techniques as previously described. The variant Hb was separated using a miniaturized flat-bed preparative IEF. The chains were then prepared by reversed phase HPLC, aminoethylated and digested with trypsin. The resulting peptides were fractionated by reversed phase HPLC and the abnormal ones were submitted to tandem mass spectrometry (MS) [2].

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