Iron chelation with deferasirox in a patient with de-novo ferroportin mutation

Journal of Trace Elements in Medicine and Biology

Volumn 30, Issue , 2015, Pages 1-3

  Unal, Sule ^a   Piperno, Alberto ^b   Gumruk, Fatma ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

Author keywords

De novo; Deferasirox; Ferroportin; Hemochromatosis; Iron

Indexed keywords

DEFERASIROX; FERRIC FERROCYANIDE; FERRITIN; FERROPORTIN; HEMOGLOBIN; IRON; MINERAL; SYNBIOTIC AGENT; TRANSFERRIN;

ABSENCE OF SIDE EFFECTS; ADOLESCENT; ADULT; ALLELE; ANTHROPOMETRY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE MARROW BIOPSY; BREAST FEEDING; BREAST MILK; CALORIC INTAKE; CASE REPORT; CHEMISTRY; CHILD DEVELOPMENT; CONTROLLED STUDY; DIET SUPPLEMENTATION; ELECTROPHORESIS; FAMILY HISTORY; FEMALE; FERRITIN BLOOD LEVEL; FERROPORTIN DISEASE; FERROPORTIN GENE; FOLLOW UP; GENE; GENE SEQUENCE; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; INFANT; IRON BINDING CAPACITY; IRON BLOOD LEVEL; IRON CHELATION; IRON OVERLOAD; IRON RESPONSIVE ELEMENT; L FERRITIN GENE; MALE; METABOLISM; MUTATIONAL ANALYSIS; NAUSEA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PHYSICAL EXAMINATION; PILOT STUDY; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; TREATMENT INDICATION;

ADULT; ANTHROPOMETRY; BREAST FEEDING; CHEMISTRY; CHILD DEVELOPMENT; DIETARY SUPPLEMENTS; ENERGY INTAKE; FEMALE; HUMANS; INFANT; MALE; METABOLISM; MILK, HUMAN; MINERALS; PILOT PROJECTS; SYNBIOTICS;

EID: 84940166646     PISSN: 0946672X     EISSN: 18783252     Source Type: Journal    
DOI: 10.1016/j.jtemb.2015.01.002     Document Type: Article

References (16)

1. Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis 2004, 32:131-138.
2. Wallace D.F., Subramaniam V.N. Non-HFE haemochromatosis. World J Gastroenterol 2007, 13:4690-4698.
3. Babitt J.L., Lin H.Y. The molecular pathogenesis of hereditary hemochromatosis. Semin Liver Dis 2011, 31:280-292.
4. Camaschella C. Diagnosis and treatment non-HFE hemohromatosis (Chapter 24). European School of Haematology (ESH) Handbook on Disorders of Erythropoiesis, Erythrocytes and Iron Metabolism 2009.
5. Roetto A., Camaschella C. New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis. Best Pract Res Clin Haematol 2005, 18:235-250.
6. Cremonesi L., Forni G.L., Soriani N., et al. Genetic and clinical heterogeneity of ferroportin disease. Br J Haematol 2005, 131:663-670.
7. Argyropoulou M.I., Astrakas L. MRI evaluation of tissue iron burden in patients with beta-thalassaemia major. Pediatr Radiol 2007, 37:1191-1200.
8. Devalia V., Carter K., Walker A.P., Perkins S.J., Worwood M., May A., et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002, 100:695-697.
9. Wallace D.F., Clark R.M., Harley H.A., Subramaniam V.N. Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. J Hepatol 2004, 40:710-713.
10. Roetto A., Merryweather-Clarke A.T., Daraio F., Livesey K., Pointon J.J., Barbabietola G., et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood 2002, 100:733-734.
11. Cazzola M., Cremonesi L., Papaioannou M., Soriani N., Kioumi A., Charalambidou A., et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol 2002, 119:539-546.
12. Tanaka C. Clinical pharmacology of deferasirox. Clin Pharmacokinet 2014, 53:679-694.
13. De Domenico I., Ward D.M., Nemeth E., Vaughn M.B., Musci G., Ganz T., et al. The molecular basis of ferroportin-linked hemochromatosis. Proc Natl Acad Sci USA 2005, 102:8955-8960.
14. Drakesmith H., Schimanski L.M., Ormerod E., Merryweather-Clarke A.T., Viprakasit V., Edwards J.P., et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 2005, 106:1092-1097.
15. Marsella M., Borgna-Pignatti C. Transfusional iron overload and iron chelation therapy in thalassemia major and sickle cell disease. Hematol Oncol Clin North Am 2014, 28:703-727.
16. Muehlenberg K., Faltermeier N., Lohse P., Tannapfel A., Pech O. Family with marked hyperferritinemia as a result of hemochromatosis type 4 (ferroportin disease). Gastroenterology 2014, 52:1075-1080.