Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload
| Autor: | Anne-Marie Jouanolle, Edouard Bardou-Jacquet, Pierre Brissot, Yves Deugnier, Olivier Loréal, Jean-Bernard Delobel, Marie-Pascale Beaumont-Epinette, Martine Ropert |
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| Přispěvatelé: | 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), 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 ) |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
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 |
| Zdroj: | Blood Cells, Molecules and Diseases Blood Cells, Molecules and Diseases, 2015, 54 (2), pp.151-154. ⟨10.1016/j.bcmd.2014.11.020⟩ Blood Cells, Molecules and Diseases, Elsevier, 2015, 54 (2), pp.151-154. ⟨10.1016/j.bcmd.2014.11.020⟩ |
| ISSN: | 1079-9796 1096-0961 |
| DOI: | 10.1016/j.bcmd.2014.11.020⟩ |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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