Monitoring of hepcidin levels in a patient with G80S-linked ferroportin disease undergoing iron depletion by phlebotomy

Clinica Chimica Acta

Volumn 430, Issue , 2014, Pages 20-21

  Wolff, Fleur ^a   Bailly, Benjamin ^a   Gulbis, Béatrice ^a   Cotton, Frédéric ^a  

^a ERASME HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; FERROPORTIN; HEMOGLOBIN; HEPCIDIN; CATION TRANSPORT PROTEIN; IRON; METAL TRANSPORTING PROTEIN 1;

ADULT; CASE REPORT; FERRITIN BLOOD LEVEL; G80S LINKED FERROPORTIN DISEASE; GENE SEQUENCE; HEMOCHROMATOSIS; HEMOGLOBIN BLOOD LEVEL; HORMONE BLOOD LEVEL; HUMAN; IRON DEPLETION; IRON OVERLOAD; LETTER; LIQUID CHROMATOGRAPHY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHLEBOTOMY; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; BLOOD; GENETICS; METABOLISM;

ADULT; CATION TRANSPORT PROTEINS; HEMOCHROMATOSIS; HEPCIDINS; HUMANS; IRON; IRON OVERLOAD; MALE; PHLEBOTOMY;

EID: 84892402259     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2013.12.024     Document Type: Letter

References (10)

1. Pietrangelo A., Montosi G., Totaro A., et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999, 341:725-732.
2. Montosi G., Donovan A., Totaro A., et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001, 108:619-623.
3. Nemeth E., Tuttle M.S., Powelson J., et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004, 306:2090-2093.
4. Mayr R., Janecke A.R., Schranz M., et al. Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. J Hepatol 2010, 53:941-949.
5. McDonald C.J., Wallace D.F., Ostini L., Bell S.J., Demediuk B., Subramaniam V.N. G80S-linked ferroportin disease: classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective. J Hepatol 2011, 54:538-544.
6. Drakesmith H., Schimanski L.M., Ormerod E., et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 2005, 106:1092-1097.
7. Sham R.L., Phatak P.D., Nemeth E., Ganz T. Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation. Blood 2009, 114:493-494.
8. Pietrangelo A., Corradini E., Ferrara F., et al. Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease. Blood Cells Mol Dis 2006, 37:192-196.
9. Mougiou A., Pietrangelo A., Caleffi A., Kourakli A., Karakantza M., Zoumbos N. G80S-linked ferroportin disease: the first clinical description in a Greek family. Blood Cells Mol Dis 2008, 41:138-139.
10. Wolff F., Deleers M., Melot C., Gulbis B., Cotton F. Hepcidin-25: measurement by LC-MS/MS in serum and urine, reference ranges and urinary fractional excretion. Clin Chim Acta 2013, 423:99-104.