D Promé

Publications (75)188.96 Total impact

• Article: Hemoglobin Phnom Penh [α117Phe(H1)‐Ile‐α118Thr(H2)]; evidence for a hotspot for insertion of residues in the third exon of the α1‐globin gene

  H. Wajcman, M.O. Préhu, C. Préhu, Y. Blouquit, D. Promé, F. Galactéros
  Human Mutation 04/2011; 11(S1):S20 - S22. · 5.69 Impact Factor
• Article: Hb Ernz Iβ123(Hl)Thr→Asn] and Hb Renert Iβ133(H1l)Val →Ala]: Two new Neutral Variants Revealed by Reversed Phase High Performance Liquid Chromatography Analysis

  P. Groff, G. Kalmes, B. Golinska, A. Miyazaki, J. Riou, N. Carte, D. Promé, J. Kister, F. Galactéros, H. Wajcman
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  ABSTRACT: Analysis of globin chains by reversed phase high performance liquid chromatography, used as an additional tool for characterizing hemoglobin variants, has led to the discovery of a new class of variants that display only differences in hydrophobicity. Two such variants are here described. Hb Ernz was found in a man of Italian origin who was polycythemic, and in two of his three daughters who were hematologically normal. Hb Renert, a slightly unstable variant, was found in a man from Cape Verde who also carried Hb S and presented with chronic hemolysis. The structural abnormalities were characterized by protein structure methods involving reversed phase high performance liquid chromatographic separations of globins and peptides, followed by mass spectrometry studies (electrospray, ion trap, tandem mass spectrom-etry).
  07/2009; 24(4):287-297.
• Article: HbTende[β124(H2)Pro→Leu]: A New Variant with a Moderate Increasein Oxygen Affinity

  H. Wajcman, J. Kister, C. Préhu, J. Riou, C. Godart, J. Bardakdjian, A. M. Soummer, D. Promé, F. Galactéros
  07/2009; 22(5-6):517-523.
• Article: Two New Gγ Chain Variants: Hb F-Clamart [γ17(A14)Lys→Asn] and Hb F-Ouled Rabah [γ19(B1)Asn→Lys]

  H. Wajcman, K. Borensztajn, J. Riou, D. Promé, D. Hurtre, J. Bardakdjian, D. Léna-Russo, I. Amouroux, R. Ducrocq
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  ABSTRACT: Two new fetal hemoglobin variants affecting the Gγ chain are reported. Hb F-Clamart was found during investigation of a French newborn who presented with a mild microcytemia. the second variant was found during neonatal screening for hemoglobinopathies of 30,000 babies from a population-at-risk living in the Paris region. It was named Hb F-Ouled Rabah because its structural modification and ethnic distribution is similar to that of Hb D-Ouled Rabah [Gγ19(B1)AsnLys]. Hb F-Ouled Rabah is clinically silent and occurs at a frequency of ca. 0.1% in newborns originating from Maghreb. Structural characterization of both variants was done by protein chemistry methods, including amino acids analysis and mass spectrometry.
  07/2009; 24(1):45-52.
• Article: Hb Uxbridge [β20(B2)Val → Gly]: A New Variant with Mild Incre in Oxygen Affinity Found During A Neonatal Screening Program

  H. Wajcman, D. Promé, J. Kister, S. C. Davies, F. Galacteros, J. S. Henthorn
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  ABSTRACT: Hb Uxbridge [β20(B2)Val → GIy] was found in an English family during a neonatal hemoglobinopathy screening program. In both the child and the parent carrying this hemoglobin variant, the red cell parameters were normal. By isoelectrofocusing Hb Uxbridge appeared to have an isoelectric point slightly higher than Hb A but was silent on cellulose acetate and acid gel electrophoresis. Structural modifications affecting position β20(B2) have been demonstrated to be responsible for a high oxygen affinity and polycythemia in Hb Olympia (Val → Met) and Hb Trölhattan (Val → GIu). In the case of Hb Uxbridge, despite an alteration of the same site, the oxygen binding parameters of the patient's hemolysate showed only a mild (ca. 20%) increase in oxygen affinity.
  07/2009; 20(4):339-350.
• Article: Two new Variants with the Same Substitution at Position β122: Hb Bushey [β122(GHS)Phe→Leu] and Hb Casablanca [β65(E9)Lys→Met;β122(GHS)Phe→Leu]

  H. Wajcman, F. Drupt, J. S. Henthorn, J. Kister, C. Préhu, J. Riou, D. Promé, F. Galactéros
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  ABSTRACT: Hb Bushey, found in a Chinese baby and his father, is a new variant with a point mutation leading to the substitution Phe→tLeu at position β122. Hb Casablanca, found in a family from Morocco, is a further example of a hemoglobin variant that carries two abnormalities in the same chain; the first is identical to that of Hb Bushey and the second to that of Hb J-Antakya [β65 (E9)Lys→Met]. Structural abnormalities of both Hbs were determined by protein chemistry methods including electrospray and tandem mass spectrometry. Their stability and oxygen binding properties were found to be identical to those of Hb A. Various mechanisms that may lead to two point mutations in the same chain are reviewed briefly.
  07/2009; 24(2):125-132.
• Article: New alpha 2 globin chain variant with low oxygen affinity affecting the N-terminal residue and leading to N-acetylation [Hb Lyon-Bron alpha 1(NA1)Val --> Ac-Ala].

  P Lacan, G Souillet, M Aubry, D Promé, S Richelme-David, J Kister, H Wajcman, A Francina
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  ABSTRACT: Hemoglobin Lyon-Bron was found in two members of a family of German ascent presenting with a moderate normocytic anemia. In this alpha 2 globin variant, the N-terminal valine of the chain was replaced by an alanine. Electrospray mass spectrometry of the alpha chain showed that, as normally, the initiator methionine was cleaved during globin processing but that the N alpha-terminal group was totally acetylated. This resulted in structural modifications of a region crucial for oxygen binding. As a consequence, hemoglobin Lyon-Bron displayed both a reduced chloride effect and a decreased oxygen affinity, this last point explaining the apparent anemia.
  American Journal of Hematology 04/2002; 69(3):214-8. · 4.67 Impact Factor
• Article: A new Ggamma chain variant: Hb F-Coignieres [gamma75(E19)Ile-->Val].

  H Wajcman, A P Yapo, J Riou, D Promé, S Richelme-David, D Hurtrel, J Bardakdjian-Michau
  Hemoglobin 12/2001; 25(4):425-8. · 1.30 Impact Factor
• Article: Hb D-Agri [beta9(A6)Ser --> Tyr;beta121(GH4)Glu --> Gln]: a new Indian hemoglobin variant with two amino acid substitutions in the same beta chain.

  R Colah, M Wadia, R Surve, A Nadkarni, S Phanasgaonkar, A Gorakshakar, D Mohanty, D Promé, H Wajcman
  Hemoglobin 09/2001; 25(3):317-21. · 1.30 Impact Factor
• Article: Hb Douala [alpha3(A1)Ser --> Phe]: a new alpha1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia.

  C Préhu, A Hanichi, A P Yapo, C Claparols, D Promé, J Riou, H Wajcman
  Hemoglobin 09/2001; 25(3):323-9. · 1.30 Impact Factor
• Article: Abnormal hemoglobins: laboratory methods.

  H Wajcman, C Préhu, J Bardakdjian-Michau, D Promé, J Riou, C Godart, M Mathis, D Hurtrel, F Galactéros
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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 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.
  Hemoglobin 06/2001; 25(2):169-81. · 1.30 Impact Factor
• Article: Hb Yaoundé [beta134(H12)Val-->Ala], a new neutral variant found in association with Hb Kenitra.

  A P Yapo, D Promé, C Claparols, J Riou, F Galactéros, H Wajcman
  Hemoglobin 03/2001; 25(1):97-101. · 1.30 Impact Factor
• Article: Hb Tsukumi [beta117(G19)His-->Tyr] found in a Moroccan woman.

  M L North, I Duwig, J Riou, D Promé, A P Yapo, J Kister, J Bardakdjian-Michau, J P Cazenave, H Wajcman
  Hemoglobin 03/2001; 25(1):107-10. · 1.30 Impact Factor
• Article: Isolation of oligopeptides from the water-soluble extract of goat cheese and their identification by mass spectrometry.

  N Sommerer, C Salles, D Promé, J C Promé, J L Le Quéré
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  ABSTRACT: A procedure for the separation and identification of small peptides from the water-soluble fraction of a goat cheese was developed. The water-soluble extract was ultrafiltered (1000 Da membrane cutoff), and peptides were isolated by sequential chromatography: size exclusion chromatography (HPLC-grade water), anion exchange chromatography (phosphate buffer gradient), and semipreparative reverse-phase high-performance liquid chromatography (water/acetonitrile gradient). The fractions obtained were analyzed by combined mass spectrometry methods including electrospray ionization, liquid secondary ionization, and tandem mass spectrometry to identify and to confirm the sequences of 28 tri- to octapeptides naturally appearing in goat cheese during ripening. Among these peptides, 26 are produced by degradation of caseins but do not correspond to the known specific cleavages due to chymosin. Only low correlation was found between hydrophobicity of peptides and HPLC elution time with acetonitrile gradient.
  Journal of Agricultural and Food Chemistry 02/2001; 49(1):402-8. · 2.82 Impact Factor
• Article: Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface.

  I Papassotiriou, J Traeger-Synodinos, D Promé, J Kister, C Vrettou, A Xaidara, M Marden, A Stamoulakatou, H Wajcman, E Kanavakis
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  ABSTRACT: Hb Sitia [beta128(H6)Ala-->Val] was found in a Greek female with slightly reduced red blood cell indices. The abnormal hemoglobin was indistinguishable from Hb A by electrophoresis but eluted after Hb A on cation exchange high performance liquid chromatography. DNA sequence analysis revealed a GCT-->GTT mutation at codon 128, which is predicted to encode an Ala-->Val substitution. This was confirmed by mass spectrometry analyses of the beta-globin chain. Since alanine at beta128(H6) interacts with several amino acids of the alpha1beta1 contact, its replacement by a larger residue results in a mild instability of the molecule and slight modifications of the oxygen binding properties.
  Hemoglobin 02/2001; 25(1):45-56. · 1.30 Impact Factor
• Article: Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.

  H Wajcman, A Lahary, D Promé, J Kister, J Riou, C Godart, C Préhu, J Traeger-Synodinos, I Papassotiriou, F Galactéros
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  ABSTRACT: Hb Mont Saint-Aignan [beta128(H6)Ala-->Pro] is a mildly unstable variant, associated with hemolytic anemia, marked microcytosis and increased alpha/beta biosynthetic ratio (1.55 versus 1.1 +/- 0.1 in the control). The abnormal chain was isolated by selective precipitation with isopropanol and the structural modification determined by protein chemistry methods (reversed phase high performance liquid chromatography and mass spectrometry). Possible mechanisms underlying the beta(+)-thalassemia-like expression of this variant are discussed.
  Hemoglobin 02/2001; 25(1):57-65. · 1.30 Impact Factor
• Article: Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis.

  P Groff, G Kalmes, B Golinska, A Miyazaki, J Riou, N Carte, D Promé, J Kister, F Galactéros, H Wajcman
  [show abstract] [hide abstract]
  ABSTRACT: Analysis of globin chains by reversed phase high performance liquid chromatography, used as an additional tool for characterizing hemoglobin variants, has led to the discovery of a new class of variants that display only differences in hydrophobicity. Two such variants are here described. Hb Ernz was found in a man of Italian origin who was polycythemic, and in two of his three daughters who were hematologically normal. Hb Renert, a slightly unstable variant, was found in a man from Cape Verde who also carried Hb S and presented with chronic hemolysis. The structural abnormalities were characterized by protein structure methods involving reversed phase high performance liquid chromatographic separations of globins and peptides, followed by mass spectrometry studies (electrospray, ion trap, tandem mass spectrometry).
  Hemoglobin 12/2000; 24(4):287-97. · 1.30 Impact Factor
• Article: Hb Nikaia [alpha20(B1)His-Asp]: a new variant of the alpha2 gene.

  C Préhu, C Godart, J Riou, A M Soummer, D Promé, F Galactéros, H Wajcman
  Hemoglobin 12/2000; 24(4):305-9. · 1.30 Impact Factor
• Article: Hb Anderlecht [alpha20(B1)His-->Pro]: a silent variant found in a Congolese newborn.

  F Cotton, H Wajcman, V Hansen, C Lin, K Jotzo, D Haumont, D Promé, J Riou, A Miyazaki, F Galactéros, F Vertongen, B Gulbis
  Hemoglobin 12/2000; 24(4):299-304. · 1.30 Impact Factor
• Article: Hb Diamant [alpha119(H2)Pro-->Leu]: a new variant with a modification at the alpha1beta1 interface.

  C Préhu, J Riou, C Godart, M Bost, C Barro, D Promé, J Kister, F Galactéros, H Wajcman
  Hemoglobin 09/2000; 24(3):249-52. · 1.30 Impact Factor