- [Neonatal screening of sickle cell disease in France]J Bardakdjian-Michau
Service de biochimie génétique du Pr Goossens, CHU Henri Mondor, AP HP, 51, avenue du, Maréchal de Tassigny, 94010 Créteil France
Arch Pediatr 15:738-40. 2008
- Neonatal screening for sickle cell disease in FranceJ Bardakdjian-Michau
Service de Biochimie et de Génétique, Unité Fonctionnelle de Génétique, Centre Hospitalier Universitaire Henri Mondor AP HP, Creteil, France
J Clin Pathol 62:31-3. 2009..After several pilot studies, screening was gradually extended to mainland France in 1996. Since 2000, the test has been performed at national level for all newborns defined as being "at risk" for SCD based on ethnic origin...
- Abnormal hemoglobins: laboratory methodsH Wajcman
INSERM U 468 and Department of Biochemistry, Hĵpital Henri Mondor, Creteil, France
Hemoglobin 25:169-81. 2001..DNA studies are also developed in many laboratories. Final identification 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...
- A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry)M Cohen-Solal
INSERM U474, Hopital Henri Mondor, Creteil, France
Br J Haematol 103:950-6. 1998....
- Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val----Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemiaJ Bardakdjian-Michau
INSERM U 91, Hopital Henri Mondor, Creteil, France
Am J Hematol 35:96-9. 1990..The new variant is unstable but exhibits normal oxygen binding properties. Hb Dhonburi was also discovered in the mother of the propositus in association with Hb E...
- A new Ggamma chain variant: Hb F-Coignieres [gamma75(E19)Ile-->Val]H Wajcman
INSERM U 468 and Service de Biochimie, Hĵpital Henri Mondor AP HP, Creteil, France
Hemoglobin 25:425-8. 2001
- [Neonatal detection of sickle cell disease]J Bardakdjian-Michau
Service de Biochimie, CHU Henri Mondor, AP PH, 51, Avenue du Marechal de Lattre de Tassigny, 94010 Creteil Cedex
J Gynecol Obstet Biol Reprod (Paris) 32:1S61-4. 2003..This is not a systematic program, but only targeted at newborns at risk for SCD...
- Hb Tsukumi [beta117(G19)His-->Tyr] found in a Moroccan womanM L North
Etablissement Francais du Sang Alsace, Strasbourg
Hemoglobin 25:107-10. 2001
- [Good practices for the study of hemoglobin]J Bardakdjian-Michau
Hopital Henri Mondor, Creteil
Ann Biol Clin (Paris) 61:401-9. 2003..The characterization of hemoglobin genetic variations requires a comprehensive set of laboratory techniques for which we specify here main clinical and technical recommendations...