Hb HARLEQUIN [b76(E20)Ala->Val]:
A NEUTRAL VARIANT FOUND DURING
DIABETIC MONITORING
Wajcman H1,*, Riou J1, Henthorn J2, Promé D3,
Richelme-David S3, Galactéros F1
*Corresponding Author: DrDr. Henri Wajcman, INSERM U468, Génétique Moléculaire et Physiopathologie, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Créteil Cédex, France; Tel: +33 149813578; Fax: +33 148993345; E-mail: wajcman@im3.inserm.fr
page: 7
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REFERENCES
1. HbVar database on abnormal hemoglobins. http:// globin.cse.psu.edu/
2. Wajcman H, Riou J, Yapo AP. Globin chain analysis by reversed phase high performance liquid chromatography: recent developments. Hemoglobin 2002; 26(3): 271-284.
3. Wajcman H, Préhu C, Bardakdjian-Michau J, Promé D, Riou J, Godart C, Mathis M, Hurtrel D, Galactéros F. Abnormal hemoglobins: laboratory methods. Hemoglobin 2001; 25(2): 169-181.
4. Promé D, Deon C, Promé JC, Wajcman H, Galacteros F, Blouquit Y. Use of combined mass spectrometry methods for the characterization of a new variant of human hemoglobin: the double mutant Hemoglobin Villeparisis b77(EF1)His→Tyr, b80(EF4)Asn→Ser. J Am Soc Mass Spectrom 1996; 7: 163-167.
5. Romain PL, Schwartz AD, Shamsuddin M, Adams JG III, Mason RG, Vida LN, Honig GR. Hemoglobin J-Chicago (b76 (E20) Ala→Asp): a new hemoglobin variant resulting from substitution of an external residue. Blood 1975; 45(3): 387-393.
6. Wajcman H, Kister J, Marden M, Bohn B, Blouquit Y, Descamps J, Goudemand M, Poyart C, Galacteros F. Hemoglobin Calais [b76(E20)Ala→Pro]: a hemoglobin variant with decreased intrinsic oxygen affinity. Biochim Biophys Acta. 1991; 1096(1): 60-66.
7. Fronticelli C, Sanna MT, Perez-Alvarado GC, Karavitis M, Lu AL, Brinnigar WS. Allosteric modulation by tertiary structure in mammalian hemoglobin. J Biol Chem 1995; 270(51): 30588-30592.
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