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Start Over Author "Marie-Pascale Beaumont-Epinette" Topic hematology
3 results on '"Marie-Pascale Beaumont-Epinette"'

1. Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis

Author

Olivier Loréal, Edouard Bardou-Jacquet, Caroline Le Lan, Xavier Causse, Marie-Pascale Beaumont-Epinette, Yves Deugnier, Anne-Marie Jouanolle, Zeineb Ben Ali, Pierre Brissot, Véronique Loustaud-Ratti, Houda Hamdi-Rozé, CHU Pontchaillou [Rennes], Pharmacologie des Immunosuppresseurs et de la Transplantation (PIST), Université de Limoges (UNILIM)-CHU Limoges-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut National de la Santé et de la Recherche Médicale (INSERM), Foie, métabolismes et cancer, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Université de Limoges (UNILIM)-CHU Limoges, Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Iron Overload, [SDV.CAN]Life Sciences [q-bio]/Cancer, 03 medical and health sciences, 0302 clinical medicine, medicine, Coding region, Humans, Clinical significance, Hemochromatosis Protein, Gene, Hemochromatosis, Aged, Genetics, business.industry, Homozygote, Genetic Variation, nutritional and metabolic diseases, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Hematology, Sequence Analysis, DNA, Middle Aged, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, 030211 gastroenterology & hepatology, Female, HAMP, business
Abstract

International audience; p.Cys282Tyr (C282Y) homozygosity explains most cases of HFE-related hemochromatosis, but a significant number of patients presenting with typical type I hemochromatosis phenotype remain unexplained. We sought to describe the clinical relevance of rare HFE variants in non-C282Y homozygotes. Patients referred for hemochromatosis to the National Reference Centre for Rare Iron Overload Diseases from 2004 to 2010 were studied. Sequencing was performed for coding region and intronic flanking sequences of HFE, HAMP, HFE2, TFR2, and SLC40A1. Nine private HFE variants were identified in 13 of 206 unrelated patients. Among those, five have not been previously described: p.Leu270Argfs*4, p.Ala271Valfs*25, p.Tyr52*, p.Lys166Asn, and p.Asp141Tyr. Our results show that rare HFE variants are identified more frequently than variants in the other genes associated with iron overload. Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients. Am. J. Hematol. 91:1202–1205, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Published
2016
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2. Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload

Author

Anne-Marie Jouanolle, Edouard Bardou-Jacquet, Pierre Brissot, Yves Deugnier, Olivier Loréal, Jean-Bernard Delobel, Marie-Pascale Beaumont-Epinette, Martine Ropert, Lecoupe-Grainville, Marie, CHU Pontchaillou [Rennes], Université de Rennes (UR), Foie, métabolismes et cancer, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), This study was supported by grants from the Programme National Hospitalier de Recherche Clinique 2010, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
Male, DNA Mutational Analysis, Gene Expression, Elevated transferrin saturation, Transferrin saturation, Diagnostic evaluation, 0302 clinical medicine, Tranferrin, Iron overload, Metal Metabolism, Inborn Errors, chemistry.chemical_classification, 0303 health sciences, Transferrin, Hematology, Middle Aged, 3. Good health, Pedigree, 030220 oncology & carcinogenesis, Molecular Medicine, Female, HAMP, Hemochromatosis, Adult, medicine.medical_specialty, Heterozygote, Genotype, Iron, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 03 medical and health sciences, Hepcidins, Internal medicine, medicine, Humans, Hemochromatosis Protein, Molecular Biology, 030304 developmental biology, Aged, business.industry, Histocompatibility Antigens Class I, Membrane Proteins, Cell Biology, medicine.disease, Endocrinology, chemistry, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Immunology, Mutation, business
Abstract

International audience; As our understanding of iron metabolism improves through the more accurate description of iron metabolism actors, new causes of iron overload are identified. We, here, report 16 cases of hereditary hypotransferrinemia related to 4 previously undescribed TF (transferrin) mutations (p.Val221Gly, p.Arg609Trp, p.Glu370Lys, p.Tyr533X and p.Cys421Arg). We show that, besides increasing serum transferrin saturation without iron overload, hypotransferrinemia, when associated to mutations in HFE or HAMP or to acquired factors, can lead to clinically relevant iron burden. These cases emphasize the usefulness of serum transferrin determination in the diagnostic evaluation of iron overload and the importance for clinicians to be aware of this syndrome.

Published
2015
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3. Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

Author

Séverine Cunat, Yves Deugnier, Anne-Marie Jouanolle, Patricia Aguilar-Martinez, Edouard Bardou-Jacquet, Bruno Pouliquen, Xavier Causse, Pierre Brissot, Véronique David, Caroline Kannengiesser, Olivier Loréal, Sylvie Sauvion, Marie-Pascale Beaumont-Epinette, Foie, métabolismes et cancer, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service des maladies du foie, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes], Centre de référence des surcharges en fer rares d'origine génétique, CHU Pontchaillou [Rennes], Département d'hématologie biologique[Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-CHU Saint-Eloi, Laboratoire de génétique moléculaire, Service de Génétique et Biochimie hormonale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service Hépato-gastro-entérologie et oncologie digestive [CHR Orléans], Centre Hospitalier Régional d'Orléans (CHRO), Service de Pédiatrie [Jean Verdier], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gastroenterologie, Centre Médical Saint Augustin, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Lecoupe-Grainville, Marie, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service des maladies du foie [CHU Rennes], Centre Hospitalier Universitaire [Rennes], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Saint Eloi (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes], and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
Adult, Male, [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, medicine.medical_specialty, Adolescent, Transferrin receptor, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Receptors, Transferrin, medicine, Humans, Juvenile, Clinical severity, Age of Onset, iron overload, Child, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, transferrin receptor 2, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Hematology, 3. Good health, Endocrinology, juvenile, haemochromatosis, 030220 oncology & carcinogenesis, Female, Hemochromatosis, Age of onset, business
Abstract

International audience

Published
2013
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