Natural History of Recessive Inheritance of DMT1 Mutations

Journal of Pediatrics

Volumn 152, Issue 1, 2008, Pages 136-139

  Iolascon, A ^a   Camaschella, C ^b   Pospisilova, D ^c   Piscopo, C ^a   Tchernia, G ^d   Beaumont, C ^e  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^c PALACKÝ UNIVERSITY   (Czech Republic)

^d BICÊTRE HOSPITAL   (France)

^e CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; FERRITIN; TRANSFERRIN;

ARTICLE; CHELATION THERAPY; DIFFERENTIAL DIAGNOSIS; FERRITIN BLOOD LEVEL; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IRON DEFICIENCY ANEMIA; IRON OVERLOAD; MICROCYTOSIS; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

ANEMIA, HYPOCHROMIC; DIAGNOSIS, DIFFERENTIAL; ERYTHROCYTES; ERYTHROPOIETIN; FERRITINS; GENES, RECESSIVE; GENOTYPE; HUMANS; INFANT, NEWBORN; IRON CHELATING AGENTS; MUTATION; PHENOTYPE; TRANSCRIPTION FACTORS; TRANSFERRIN;

EID: 37249015885     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2007.08.041     Document Type: Article

References (15)

1. Cook J.D. Diagnosis and management of iron-deficiency anaemia. Best Pract Res Clin Haematol 18 (2005) 319-332
2. Boccio J., Salgueiro J., Lysionek A., Zubillaga M., Goldman C., Weill R., et al. Iron metabolism: current concepts of an essential micronutrient. Arch Latinoam Nutr 53 (2003) 119-132
3. Andrews N.C., and Schmidt P.J. Iron homeostasis. Annu Rev Physiol 69 (2007) 69-85
4. Fleming M.D., Trenor III C.C., Su M.A., Foernzler D., Beier D.R., Dietrich W.F., et al. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet 16 (1997) 383-386
5. Fleming M.D., Romano M.A., Su M.A., Garrick L.M., Garrick M.D., and Andrews N.C. Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc Natl Acad Sci U S A 95 (1998) 1148-1153
6. Mims M.P., Guan Y., Pospisilova D., Priwitzerova M., Indrak K., Ponka P., et al. Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood 105 (2005) 1337-1342
7. Iolascon A., d'Apolito M., Servedio V., Cimmino F., Piga A., and Camaschella C. Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). Blood 107 (2006) 349-354
8. Beaumont C., Delaunay J., Hetet G., Grandchamp B., de Montalembert M., and Tchernia G. Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. Blood 107 (2006) 4168-4170
9. Priwitzerova M., Pospisilova D., Prchal J.T., Indrak K., Hlobilkova A., Mihal V., et al. Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells. Blood 103 (2004) 3991-3992
10. Origa R., Galanello R., Ganz T., Giagu N., Maccioni L., Faa G., et al. Liver iron concentrations and urinary hepcidin in beta-thalassemia. Haematologica 92 (2007) 583-588
11. Gunshin H., Fujiwara Y., Custodio A.O., Direnzo C., Robine S., and Andrews N.C. Slc11a2 is required for intestinal iron absorption and erythropoiesis but dispensable in placenta and liver. J Clin Invest 115 (2005) 1258-1266
12. Priwitzerova M., Nie G., Sheftel A.D., Pospisilova D., Divoky V., and Ponka P. Functional consequences of the human DMT1 mutation on protein expression and iron uptake. Blood 106 (2005) 3985-3987
13. Lam Yuk Tseung S., Camaschella C., Iolascon A., and Gros P. A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. Blood Cells Mol Dis 36 (2006) 347-354
14. Pospisilova D., Mims M.P., Nemeth E., Ganz T., and Prchal J.T. DMT1 mutation: response of anemia to darbepoetin administration and implications for iron homeostasis. Blood 108 (2006) 404-405
15. Kemp D.S., Lang P.A., Duranton C., Akel A., Kang Lang K.S., Huber S.M., et al. Enhanced programmed cell death in iron-deficient erythrocytes. FASEB J 20 (2006) 368-370