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3. DIVERSITY OF β-GLOBIN HAPLOTYPES IN SICKLE CELL DISEASE PATIENTS FROM BRAZIL

Author

Sandoval, ESR, primary, Milhomens, J, additional, Viana, LB, additional, Borges, JS, additional, Panepucci, RA, additional, Grilo, KTM, additional, Prochaska, CL, additional, Haddad, R, additional, Leite, LE, additional, Elion, J, additional, Nemer, WE, additional, Pinto, ACS, additional, Santos, FLS, additional, Romana, M, additional, Covas, DT, additional, and Kashima, S, additional

Published
2023
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5. Defining global strategies to improve outcomes in sickle cell disease: a Lancet Haematology commission

Author

Piel, F, Rees, DC, BeBaun, MR, Nnodu, MR, Ranque, B, Thompson, AA, Ware, RE, Abboud, MR, Abraham, A, Ambrose, EE, Andemariam, B, Colah, R, Colombatti, R, Conran, N, Costa, FF, Cronin, RM, De Montalembert, M, Elion, J, Esrick, E, Greenway, AL, Idris, I, Issom, DZ, Jain, D, Jordan, LC, Kaplan, ZS, King, AA, Lloyd-Puryear, M, Oppong, SA, Sharma, A, Sung, L, Tshilolo, L, Wilkie, DJ, and Ohene-Frempong, K

Published
2023

8. P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL

Author

Coralea Stephanou, C, primary, Petros Kountouris, P, additional, Carsten W Lederer, C, additional, Celeste Bento, C, additional, Cornelis L Hartveld, C, additional, Jan Traeger-Synodinos, J, additional, John S Waye, J, additional, Zhiyu Peng, Z, additional, Irene Fylaktou, I, additional, Hashim Halim-Fikri, H, additional, Tamara T. Koopmann, T, additional, Landry Nfonsam, L, additional, Jun Sun, J, additional, Franck Nzengu-Lukusa, F, additional, Michael Angastiniotis, M, additional, Catherine Badens, C, additional, Bertha Ibarra Cortes, B, additional, Johan T. den Dunnen, J, additional, Jacques Elion, J, additional, Suthat Fucharoen, S, additional, Kyriaki Michailidou, K, additional, Thessalia Papasavva, T, additional, Antonio Piga, A, additional, Raj Ramesar, R, additional, Swee Lay Thein, S, additional, Léon Tshilolo, L, additional, Zilfalil Bin Alwi, Z, additional, and Marina Kleanthous, M, additional

Published
2022
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16. Identification of constitutional MT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

Author

Jeanpierre, C., Denamur, E., Henry I., Cabanis, J.-O., Luce, S., Cecille, A., Elion, J., Peuchmaur, M., Loirat, C., Niaudet, P., Gubler, M.-C., and Junien, C.

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Genetics, Databases -- Usage, Genitourinary organs -- Abnormalities, Hermaphroditism -- Genetic aspects, Nephroblastoma -- Genetic aspects, Biological sciences
Abstract

Constitutional MT1 mutations have been found in patients with isolated diffuse mesangial sclerosis (DMA) or Denys-Drash syndrome. A computerized mutation database has been used for analysis of correlations of genotypes and phenotypes. A series of 24 patients was analyzed. Ten had isolated DMS (IDMS), ten had DDS, and 4 had urogenital abnormalities and/or Wilms tumor (WT). WT1 heterozygous mutations were found in 16 patients, of whom four presented with IDMS.

Published
1998

25. Pharmacogenetic and Pharmacogenomic Studies

Author

Arnoux, P.Y., Baumelou, E., Beaune, P.H., Boissel, J.P., Cambien, F., Cano-Petit, M., Deleuze, J.F., Diquet, B., Elion, J., Fluckiger, L., Funck-Brentano, C., Job, J.M., Lechat, Ph., Mignot, L., Mouly, S., de Curzon, A. Parent, Alhenc-Gelas, François, Parmentier, Laurent, and Bisagni, Anne

Published
2003
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26. Iron overload in thalassaemias and genetic haemochromatosis

Author

Aguilar-Martinez, P., Schved, J. F., Badens, C., Thuret, I., Michel, G., Neonato, M. G., Peltier, J. Y., Girot, R., Pissard, S., Galacteros, F., Bachir, D., Rose, C., Picot, M. C., Denamur, E., and Elion, J.

Published
2000

35. The european hematology association roadmap for european hematology research: A consensus document

Author

Engert, A. Balduini, C. Brand, A. Coiffier, B. Cordonnier, C. Döhner, H. De Wit, T.D. Eichinger, S. Fibbe, W. Green, T. De Haas, F. Iolascon, A. Jaffredo, T. Rodeghiero, F. Sall Es, G. Schuringa, J.J. André, M. Andre-Schmutz, I. Bacigalupo, A. Bochud, P.-Y. Den Boer, M. Bonini, C. Camaschella, C. Cant, A. Cappellini, M.D. Cazzola, M. Celso, C.L. Dimopoulos, M. Douay, L. Dzierzak, E. Einsele, H. Ferreri, A. De Franceschi, L. Gaulard, P. Gottgens, B. Greinacher, A. Gresele, P. Gribben, J. De Haan, G. Hansen, J.-B. Hochhaus, A. Kadir, R. Kaveri, S. Kouskoff, V. Kühne, T. Kyrle, P. Ljungman, P. Maschmeyer, G. Méndez-Ferrer, S. Milsom, M. Mummery, C. Ossenkoppele, G. Pecci, A. Peyvandi, F. Philipsen, S. Reitsma, P. Ribera, J.M. Risitano, A. Rivella, S. Ruf, W. Schroeder, T. Scully, M. Socie, G. Staal, F. Stanworth, S. Stauder, R. Stilgenbauer, S. Tamary, H. Theilgaard-Mönch, K. Thein, S.L. Tilly, H. Trneny, M. Vainchenker, W. Vannucchi, A.M. Viscoli, C. Vrielink, H. Zaaijer, H. Zanella, A. Zolla, L. Zwaginga, J.J. Martinez, P.A. Van Den Akker, E. Allard, S. Anagnou, N. Andolfo, I. Andrau, J.-C. Angelucci, E. Anstee, D. Aurer, I. Avet-Loiseau, H. Aydinok, Y. Bakchoul, T. Balduini, A. Barcellini, W. Baruch, D. Baruchel, A. Bayry, J. Bento, C. Van Den Berg, A. Bernardi, R. Bianchi, P. Bigas, A. Biondi, A. Bohonek, M. Bonnet, D. Borchmann, P. Borregaard, N. Brækkan, S. Van Den Brink, M. Brodin, E. Bullinger, L. Buske, C. Butzeck, B. Cammenga, J. Campo, E. Carbone, A. Cervantes, F. Cesaro, S. Charbord, P. Claas, F. Cohen, H. Conard, J. Coppo, P. Vives Corron, J.-L. Da Costa, L. Davi, F. Delwel, R. Dianzani, I. Domanović, D. Donnelly, P. Drnovšek, T.D. Dreyling, M. Du, M.-Q. Dufour, C. Durand, C. Efremov, D. Eleftheriou, A. Elion, J. Emonts, M. Engelhardt, M. Ezine, S. Falkenburg, F. Favier, R. Federico, M. Fenaux, P. Fitzgibbon, J. Flygare, J. Foà, R. Forrester, L. Galacteros, F. Garagiola, I. Gardiner, C. Garraud, O. Van Geet, C. Geiger, H. Geissler, J. Germing, U. Ghevaert, C. Girelli, D. Godeau, B. Gökbuget, N. Goldschmidt, H. Goodeve, A. Graf, T. Graziadei, G. Griesshammer, M. Gruel, Y. Guilhot, F. Von Gunten, S. Gyssens, I. Halter, J. Harrison, C. Harteveld, C. Hellström-Lindberg, E. Hermine, O. Higgs, D. Hillmen, P. Hirsch, H. Hoskin, P. Huls, G. Inati, A. Johnson, P. Kattamis, A. Kiefel, V. Kleanthous, M. Klump, H. Krause, D. Hovinga, J.K. Lacaud, G. Lacroix-Desmazes, S. Landman-Parker, J. Legouill, S. Lenz, G. Von Lilienfeld-Toal, M. Von Lindern, M. Lopez-Guillermo, A. Lopriore, E. Lozano, M. Macintyre, E. Makris, M. Mannhalter, C. Martens, J. Mathas, S. Matzdorff, A. Medvinsky, A. Menendez, P. Migliaccio, A.R. Miharada, K. Mikulska, M. Minard, V. Montalbán, C. De Montalembert, M. Montserrat, E. Morange, P.-E. Mountford, J. Muckenthaler, M. Müller-Tidow, C. Mumford, A. Nadel, B. Navarro, J.-T. El Nemer, W. Noizat-Pirenne, F. O’Mahony, B. Oldenburg, J. Olsson, M. Oostendorp, R. Palumbo, A. Passamonti, F. Patient, R. De Latour, R.P. Pflumio, F. Pierelli, L. Piga, A. Pollard, D. Raaijmakers, M. Radford, J. Rambach, R. Koneti Rao, A. Raslova, H. Rebulla, P. Rees, D. Ribrag, V. Rijneveld, A. Rinalducci, S. Robak, T. Roberts, I. Rodrigues, C. Rosendaal, F. Rosenwald, A. Rule, S. Russo, R. Saglio, G. Sanchez, M. Scharf, R.E. Schlenke, P. Semple, J. Sierra, J. So-Osman, C. Soria, J.M. Stamatopoulos, K. Stegmayr, B. Stunnenberg, H. Swinkels, D. Barata, J.P.T. Taghon, T. Taher, A. Terpos, E. Thachil, J. Tissot, J.D. Touw, I. Toye, A. Trappe, R. Traverse-Glehen, A. Unal, S. Vaulont, S. Viprakasit, V. Vitolo, U. Van Wijk, R. Wójtowicz, A. Zeerleder, S. Zieger, B. EHA Roadmap for European Hematology Research

Abstract

The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at ∈ European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better fu treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine ‘sections’ in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients. © 2016 Ferrata Storti Foundation.

Published
2016

39. Haemoglobin D-Ouled Rabah among the Mozabites: A Relevant Variant to Trace the Origin of Berber-Speaking Populations

Author

Merghoub T, Alicia SANCHEZ-MAZAS, Tamouza R, Cy, Lu, Bouzid K, Fz, Ardjoun, Labie D, Lapouméroulie C, and Elion J

Subjects
Genetic Markers, Polymorphism, Genetic, Hemoglobins, Abnormal, DNA Mutational Analysis, Hemoglobin C, Hemoglobins, Gene Frequency, Haplotypes, Algeria, Blood Group Antigens, Ethnicity, Genetics, Humans, Genetics (clinical)
Abstract

We have studied haemoglobin (Hb) variants and blood groups (ABO, RH, and Kell) in 598 children from the Berber population of the Mzab. Hb D-Ouled Rabah, considered as a private marker of the Kel Kummer Tuaregs, and Hb C were found at the same gene frequency (0.015). Haplotype analysis suggests a single origin to the Hb D mutation. Genetic distances calculated from the blood group data cluster Mozabites and Tuaregs with the other Berber-speaking groups, Arabic-speaking populations being more distant. But, we found no specific relationship between Mozabites and Kel Kummers. Tuaregs in general exhibit features that tend to differentiate them from other Berber-speaking groups. Hb D-Ouled Rabah may be specific of Berber-speaking populations.

Published
1997

40. Strategy linking several analytical methods of neonatal screening for sickle cell disease

Author

Ducrocq, R, Pascaud, O, Bevier, A, Finet, C, Benkerrou, M, and Elion, J

Subjects
Sickle cell anemia -- Diagnosis, Isoelectric focusing -- Usage, Infants -- Diseases -- Usage, Liquid chromatography -- Usage, Health, Social sciences
Abstract

Abstract Background--The French national programme for the neonatal screening of sickle cell disease (SCD) was set up in 1995. This screening is targeted at newborn infants at risk. Over 5 [...]

Published
2001

41. [Pathophysiology of sickle cell disease]

Author

Elion J, Sandrine LAURANCE, and Lapouméroulie C

Subjects
Erythrocytes, Erythrocyte Membrane, Hemoglobin, Sickle, Cell Adhesion, Humans, Anemia, Sickle Cell, Endothelium, Vascular, Vascular Diseases
Abstract

It has been 100 years since Herrick published the first medical case report of sickle cell disease. In 1949, Pauling discovered hemoglobin S (HbS). As early as the 1960-70s, emerged a coherent detailed molecular-level description of pathophysiology of sickle disease. It involved polymerization of deoxyhemoglobin S with formation of long fibers inside red blood cells (RBC) causing a distorted sickle shape and shortened lifespan. These changes constitute the basic disease process and account for hemolytic anemia and for obstructive events underlying vasoocclusive crises (VOC). However, they do not explain the mechanisms that trigger VOC. The purpose of this review is to present recent data on dehydration of sickle cell RBC, abnormalities in RBC adhesion to the vascular endothelium, the role of inflammatory events and of activation of all cells in the vessel, and abnormalities of vascular tone and carbon monoxide metabolism. These data provide new insight into the pathophysiology of the first molecular disease.

Published
2011

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