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

Abstract

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.

• Authors: Marie-Pascale Beaumont-Epinette, Jean-Bernard Delobel, Martine Ropert, Yves Deugnier, Olivier Loréal, Anne-Marie Jouanolle, Pierre Brissot, Edouard Bardou-Jacquet
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 54 Issue 2 Pg. 151-4 (Feb 2015) ISSN: 1096-0961 [Electronic] United States
• PMID: 25486930 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 Elsevier Inc. All rights reserved.

Chemical References

• HAMP protein, human
• HFE protein, human
• Hemochromatosis Protein
• Hepcidins
• Histocompatibility Antigens Class I
• Membrane Proteins
• Transferrin
• Iron

Topics

• Adult
• Aged
• DNA Mutational Analysis
• Female
• Gene Expression
• Genotype
• Hemochromatosis Protein
• Hepcidins (genetics, metabolism)
• Heterozygote
• Histocompatibility Antigens Class I (genetics, metabolism)
• Humans
• Iron (metabolism)
• Iron Overload (blood, etiology, genetics, pathology)
• Male
• Membrane Proteins (genetics, metabolism)
• Metal Metabolism, Inborn Errors (blood, complications, genetics, pathology)
• Middle Aged
• Mutation
• Pedigree
• Transferrin (deficiency, genetics, metabolism)