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Journal articles
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.
Cited literature [13 references]
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01120455
Contributor : Marie Lecoupe-Grainville <>
Submitted on : Wednesday, February 25, 2015 - 4:22:16 PM
Last modification on : Wednesday, May 16, 2018 - 11:23:30 AM
Long-term archiving on: : Tuesday, May 26, 2015 - 1:36:21 PM
Contributor : Marie Lecoupe-Grainville <>
Submitted on : Wednesday, February 25, 2015 - 4:22:16 PM
Last modification on : Wednesday, May 16, 2018 - 11:23:30 AM
Long-term archiving on: : Tuesday, May 26, 2015 - 1:36:21 PM
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Hereditary hypotransferrinemia...
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