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Volumn 46, Issue 4, 2009, Pages 378-386

Iron-Refractory Iron Deficiency Anemia

Author keywords

[No Author keywords available]

Indexed keywords

FERROUS SULFATE; HEMOJUVELIN; HEPCIDIN; IRON; IRON DEXTRAN; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; PROTEIN TMPRSS6; SERINE PROTEINASE; UNCLASSIFIED DRUG;

EID: 70349309740     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2009.06.006     Document Type: Article
Times cited : (86)

References (52)
  • 1
    • 0019499705 scopus 로고
    • Malabsorption and defective utilization of iron in three siblings
    • Buchanan G.R., and Sheehan R.G. Malabsorption and defective utilization of iron in three siblings. J Pediatr 98 (1981) 723-728
    • (1981) J Pediatr , vol.98 , pp. 723-728
    • Buchanan, G.R.1    Sheehan, R.G.2
  • 2
    • 0023931784 scopus 로고
    • Heme metabolism and in vitro erythropoiesis in anemia associated with hypochromic microcytosis
    • Brown A.C., Lutton J.D., Pearson H.A., Nelson J.C., Levere R.D., and Abraham N.G. Heme metabolism and in vitro erythropoiesis in anemia associated with hypochromic microcytosis. Am J Hematol 27 (1988) 1-6
    • (1988) Am J Hematol , vol.27 , pp. 1-6
    • Brown, A.C.1    Lutton, J.D.2    Pearson, H.A.3    Nelson, J.C.4    Levere, R.D.5    Abraham, N.G.6
  • 3
    • 0029993368 scopus 로고    scopus 로고
    • Microcytic anemia with iron malabsorption: an inherited disorder of iron metabolism
    • Hartman K.R., and Barker J.A. Microcytic anemia with iron malabsorption: an inherited disorder of iron metabolism. Am J Hematol 51 (1996) 269-275
    • (1996) Am J Hematol , vol.51 , pp. 269-275
    • Hartman, K.R.1    Barker, J.A.2
  • 4
    • 0033504061 scopus 로고    scopus 로고
    • Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption
    • Pearson H.A., and Lukens J.N. Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. J Pediatr Hematol Oncol 21 (1999) 412-417
    • (1999) J Pediatr Hematol Oncol , vol.21 , pp. 412-417
    • Pearson, H.A.1    Lukens, J.N.2
  • 5
    • 0031427860 scopus 로고    scopus 로고
    • Iron deficiency: lessons from anemic mice
    • Andrews N.C. Iron deficiency: lessons from anemic mice. Yale J Biol Med 70 (1997) 219-226
    • (1997) Yale J Biol Med , vol.70 , pp. 219-226
    • Andrews, N.C.1
  • 6
    • 4243210173 scopus 로고    scopus 로고
    • Studies of NRAMP2, transferrin receptor and transferrin genes as candidate genes for human hereditary microcytic anemia due to defective iron absorption and utilization [abstract]
    • Galanello R., Cau M., Melis M.A., Deidda F., Cao A., and Cazzola M. Studies of NRAMP2, transferrin receptor and transferrin genes as candidate genes for human hereditary microcytic anemia due to defective iron absorption and utilization [abstract]. ASH Annual Meeting Abstracts 92S (1998) 669a
    • (1998) ASH Annual Meeting Abstracts , vol.92 S
    • Galanello, R.1    Cau, M.2    Melis, M.A.3    Deidda, F.4    Cao, A.5    Cazzola, M.6
  • 7
    • 0035379317 scopus 로고    scopus 로고
    • Iron deficiency anemia due to a defect in iron metabolism: a case report
    • Mayo M.M., and Samuel S.M. Iron deficiency anemia due to a defect in iron metabolism: a case report. Clin Lab Sci 14 (2001) 135-138
    • (2001) Clin Lab Sci , vol.14 , pp. 135-138
    • Mayo, M.M.1    Samuel, S.M.2
  • 9
    • 54349094273 scopus 로고    scopus 로고
    • A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron
    • Melis M.A., Cau M., Congiu R., Sole G., Barella S., Cao A., et al. A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica 93 (2008) 1473-1479
    • (2008) Haematologica , vol.93 , pp. 1473-1479
    • Melis, M.A.1    Cau, M.2    Congiu, R.3    Sole, G.4    Barella, S.5    Cao, A.6
  • 10
  • 11
    • 70349371031 scopus 로고    scopus 로고
    • Identification of a gene involve in hereditary microcytic anemia due to defective iron absorption in a Sardinian family [abstract]
    • Melis M.A., Cau M., Congiu R., Sole G., Cao A., and Galanello R. Identification of a gene involve in hereditary microcytic anemia due to defective iron absorption in a Sardinian family [abstract]. ESHG Annual Meeting Abstracts 15 S1 (2007) 261
    • (2007) ESHG Annual Meeting Abstracts , vol.15 S1 , pp. 261
    • Melis, M.A.1    Cau, M.2    Congiu, R.3    Sole, G.4    Cao, A.5    Galanello, R.6
  • 12
    • 0037020169 scopus 로고    scopus 로고
    • Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins
    • Velasco G., Cal S., Quesada V., Sanchez L.M., and Lopez-Otin C. Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins. J Biol Chem 277 (2002) 37637-37646
    • (2002) J Biol Chem , vol.277 , pp. 37637-37646
    • Velasco, G.1    Cal, S.2    Quesada, V.3    Sanchez, L.M.4    Lopez-Otin, C.5
  • 13
    • 44449177930 scopus 로고    scopus 로고
    • The serine protease TMPRSS6 is required to sense iron deficiency
    • Du X., She E., Gelbart T., Truksa J., Lee P., Xia Y., et al. The serine protease TMPRSS6 is required to sense iron deficiency. Science 320 (2008) 1088-1092
    • (2008) Science , vol.320 , pp. 1088-1092
    • Du, X.1    She, E.2    Gelbart, T.3    Truksa, J.4    Lee, P.5    Xia, Y.6
  • 14
    • 70349375736 scopus 로고    scopus 로고
    • The mask mutation identifies Tmprss6 as an essential suppressor of hepcidin [abstract]
    • Beutler E., Lee P., Gelbart T., Du X., and Beutler B. The mask mutation identifies Tmprss6 as an essential suppressor of hepcidin [abstract]. ASH Annual Meeting Abstracts 110 (2007) 9a
    • (2007) ASH Annual Meeting Abstracts , vol.110
    • Beutler, E.1    Lee, P.2    Gelbart, T.3    Du, X.4    Beutler, B.5
  • 15
    • 0037688169 scopus 로고    scopus 로고
    • Membrane anchored serine proteases: a rapidly expanding group of cell surface proteolytic enzymes with potential roles in cancer
    • Netzel-Arnett S., Hooper J.D., Szabo R., Madison E.L., Quigley J.P., Bugge T.H., et al. Membrane anchored serine proteases: a rapidly expanding group of cell surface proteolytic enzymes with potential roles in cancer. Cancer Metastasis Rev 22 (2003) 237-258
    • (2003) Cancer Metastasis Rev , vol.22 , pp. 237-258
    • Netzel-Arnett, S.1    Hooper, J.D.2    Szabo, R.3    Madison, E.L.4    Quigley, J.P.5    Bugge, T.H.6
  • 16
    • 52649096861 scopus 로고    scopus 로고
    • Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency
    • Guillem F., Lawson S., Kannengiesser C., Westerman M., Beaumont C., and Grandchamp B. Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. Blood 112 (2008) 2089-2091
    • (2008) Blood , vol.112 , pp. 2089-2091
    • Guillem, F.1    Lawson, S.2    Kannengiesser, C.3    Westerman, M.4    Beaumont, C.5    Grandchamp, B.6
  • 18
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • The International HapMap Consortium
    • The International HapMap Consortium. The International HapMap Project. Nature 426 (2003) 789-796
    • (2003) Nature , vol.426 , pp. 789-796
  • 19
    • 0033603574 scopus 로고    scopus 로고
    • Molecular cloning of cDNA for matriptase, a matrix-degrading serine protease with trypsin-like activity
    • Lin C.Y., Anders J., Johnson M., Sang Q.A., and Dickson R.B. Molecular cloning of cDNA for matriptase, a matrix-degrading serine protease with trypsin-like activity. J Biol Chem 274 (1999) 18231-18236
    • (1999) J Biol Chem , vol.274 , pp. 18231-18236
    • Lin, C.Y.1    Anders, J.2    Johnson, M.3    Sang, Q.A.4    Dickson, R.B.5
  • 20
    • 34250777391 scopus 로고    scopus 로고
    • Matriptase-2 inhibits breast tumor growth and invasion and correlates with favorable prognosis for breast cancer patients
    • Parr C., Sanders A.J., Davies G., Martin T., Lane J., Mason M.D., et al. Matriptase-2 inhibits breast tumor growth and invasion and correlates with favorable prognosis for breast cancer patients. Clin Cancer Res 13 (2007) 3568-3576
    • (2007) Clin Cancer Res , vol.13 , pp. 3568-3576
    • Parr, C.1    Sanders, A.J.2    Davies, G.3    Martin, T.4    Lane, J.5    Mason, M.D.6
  • 21
    • 48749092358 scopus 로고    scopus 로고
    • Genetic upregulation of matriptase-2 reduces the aggressiveness of prostate cancer cells in vitro and in vivo and affects FAK and paxillin localisation
    • Sanders A.J., Parr C., Martin T.A., Lane J., Mason M.D., and Jiang W.G. Genetic upregulation of matriptase-2 reduces the aggressiveness of prostate cancer cells in vitro and in vivo and affects FAK and paxillin localisation. J Cell Physiol 216 (2008) 780-789
    • (2008) J Cell Physiol , vol.216 , pp. 780-789
    • Sanders, A.J.1    Parr, C.2    Martin, T.A.3    Lane, J.4    Mason, M.D.5    Jiang, W.G.6
  • 22
    • 33750133047 scopus 로고    scopus 로고
    • Regulation of iron metabolism by hepcidin
    • Nemeth E., and Ganz T. Regulation of iron metabolism by hepcidin. Annu Rev Nutr 26 (2006) 323-342
    • (2006) Annu Rev Nutr , vol.26 , pp. 323-342
    • Nemeth, E.1    Ganz, T.2
  • 23
    • 0035896581 scopus 로고    scopus 로고
    • A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
    • Pigeon C., Ilyin G., Courselaud B., Leroyer P., Turlin B., Brissot P., et al. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 276 (2001) 7811-7819
    • (2001) J Biol Chem , vol.276 , pp. 7811-7819
    • Pigeon, C.1    Ilyin, G.2    Courselaud, B.3    Leroyer, P.4    Turlin, B.5    Brissot, P.6
  • 24
    • 34147197662 scopus 로고    scopus 로고
    • Mass spectrometry-based hepcidin measurements in serum and urine: analytical aspects and clinical implications
    • Kemna E.H., Tjalsma H., Podust V.N., and Swinkels D.W. Mass spectrometry-based hepcidin measurements in serum and urine: analytical aspects and clinical implications. Clin Chem 53 (2007) 620-628
    • (2007) Clin Chem , vol.53 , pp. 620-628
    • Kemna, E.H.1    Tjalsma, H.2    Podust, V.N.3    Swinkels, D.W.4
  • 26
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth E., Tuttle M.S., Powelson J., Vaughn M.B., Donovan A., Ward D.M., et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306 (2004) 2090-2093
    • (2004) Science , vol.306 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3    Vaughn, M.B.4    Donovan, A.5    Ward, D.M.6
  • 27
    • 30144432585 scopus 로고    scopus 로고
    • The N-terminus of hepcidin is essential for its interaction with ferroportin: structure-function study
    • Nemeth E., Preza G.C., Jung C.L., Kaplan J., Waring A.J., and Ganz T. The N-terminus of hepcidin is essential for its interaction with ferroportin: structure-function study. Blood 107 (2006) 328-333
    • (2006) Blood , vol.107 , pp. 328-333
    • Nemeth, E.1    Preza, G.C.2    Jung, C.L.3    Kaplan, J.4    Waring, A.J.5    Ganz, T.6
  • 30
    • 54349096688 scopus 로고    scopus 로고
    • The membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis
    • Folgueras A.R., Martin de Lara F., Pendas A.M., Garabaya C., Rodriguez F., Astudillo A., et al. The membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis. Blood 112 (2008) 2539-2545
    • (2008) Blood , vol.112 , pp. 2539-2545
    • Folgueras, A.R.1    Martin de Lara, F.2    Pendas, A.M.3    Garabaya, C.4    Rodriguez, F.5    Astudillo, A.6
  • 31
    • 56449096622 scopus 로고    scopus 로고
    • The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin
    • Silvestri L., Pagani A., Nai A., De Domenico I., Kaplan J., and Camaschella C. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab 8 (2008) 502-511
    • (2008) Cell Metab , vol.8 , pp. 502-511
    • Silvestri, L.1    Pagani, A.2    Nai, A.3    De Domenico, I.4    Kaplan, J.5    Camaschella, C.6
  • 33
    • 33646370235 scopus 로고    scopus 로고
    • Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression
    • Babitt J.L., Huang F.W., Wrighting D.M., Xia Y., Sidis Y., Samad T.A., et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet 38 (2006) 531-539
    • (2006) Nat Genet , vol.38 , pp. 531-539
    • Babitt, J.L.1    Huang, F.W.2    Wrighting, D.M.3    Xia, Y.4    Sidis, Y.5    Samad, T.A.6
  • 34
    • 21344455768 scopus 로고    scopus 로고
    • BMP receptor signaling: transcriptional targets, regulation of signals, and signaling cross-talk
    • Miyazono K., Maeda S., and Imamura T. BMP receptor signaling: transcriptional targets, regulation of signals, and signaling cross-talk. Cytokine Growth Factor Rev 16 (2005) 251-263
    • (2005) Cytokine Growth Factor Rev , vol.16 , pp. 251-263
    • Miyazono, K.1    Maeda, S.2    Imamura, T.3
  • 35
    • 63149128149 scopus 로고    scopus 로고
    • Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis
    • Iolascon A., De Falco L., and Beaumont C. Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis. Haematologica 94 (2009) 395-408
    • (2009) Haematologica , vol.94 , pp. 395-408
    • Iolascon, A.1    De Falco, L.2    Beaumont, C.3
  • 36
    • 12844260664 scopus 로고    scopus 로고
    • Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload
    • 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
    • (2005) Blood , vol.105 , pp. 1337-1342
    • Mims, M.P.1    Guan, Y.2    Pospisilova, D.3    Priwitzerova, M.4    Indrak, K.5    Ponka, P.6
  • 37
    • 30144443274 scopus 로고    scopus 로고
    • Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)
    • 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
    • (2006) Blood , vol.107 , pp. 349-354
    • Iolascon, A.1    d'Apolito, M.2    Servedio, V.3    Cimmino, F.4    Piga, A.5    Camaschella, C.6
  • 38
    • 33646537173 scopus 로고    scopus 로고
    • Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload
    • 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
    • (2006) Blood , vol.107 , pp. 4168-4170
    • Beaumont, C.1    Delaunay, J.2    Hetet, G.3    Grandchamp, B.4    de Montalembert, M.5    Tchernia, G.6
  • 39
    • 0030755366 scopus 로고    scopus 로고
    • Cloning and characterization of a mammalian proton-coupled metal-ion transporter
    • Gunshin H., Mackenzie B., Berger U.V., Gunshin Y., Romero M.F., Boron W.F., et al. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 388 (1997) 482-488
    • (1997) Nature , vol.388 , pp. 482-488
    • Gunshin, H.1    Mackenzie, B.2    Berger, U.V.3    Gunshin, Y.4    Romero, M.F.5    Boron, W.F.6
  • 40
    • 0035895096 scopus 로고    scopus 로고
    • Characterization of the iron transporter DMT1 (NRAMP2/DCT1) in red blood cells of normal and anemic mk/mk mice
    • Canonne-Hergaux F., Zhang A.S., Ponka P., and Gros P. Characterization of the iron transporter DMT1 (NRAMP2/DCT1) in red blood cells of normal and anemic mk/mk mice. Blood 98 (2001) 3823-3830
    • (2001) Blood , vol.98 , pp. 3823-3830
    • Canonne-Hergaux, F.1    Zhang, A.S.2    Ponka, P.3    Gros, P.4
  • 42
    • 0016750343 scopus 로고
    • Red cell iron uptake in hereditary microcytic anemia
    • Edwards J.A., and Hoke J.E. Red cell iron uptake in hereditary microcytic anemia. Blood 46 (1975) 381-388
    • (1975) Blood , vol.46 , pp. 381-388
    • Edwards, J.A.1    Hoke, J.E.2
  • 43
  • 44
    • 0011938460 scopus 로고
    • Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis
    • Craven C.M., Alexander J., Eldridge M., Kushner J.P., Bernstein S., and Kaplan J. Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis. Proc Natl Acad Sci U S A 84 (1987) 3457-3461
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 3457-3461
    • Craven, C.M.1    Alexander, J.2    Eldridge, M.3    Kushner, J.P.4    Bernstein, S.5    Kaplan, J.6
  • 47
    • 38749137357 scopus 로고    scopus 로고
    • A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene
    • Aslan D., Crain K., and Beutler E. A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene. Acta Haematol 118 (2007) 244-247
    • (2007) Acta Haematol , vol.118 , pp. 244-247
    • Aslan, D.1    Crain, K.2    Beutler, E.3
  • 48
    • 0037111732 scopus 로고    scopus 로고
    • Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease
    • Weinstein D.A., Roy C.N., Fleming M.D., Loda M.F., Wolfsdorf J.I., and Andrews N.C. Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. Blood 100 (2002) 3776-3781
    • (2002) Blood , vol.100 , pp. 3776-3781
    • Weinstein, D.A.1    Roy, C.N.2    Fleming, M.D.3    Loda, M.F.4    Wolfsdorf, J.I.5    Andrews, N.C.6
  • 49
    • 33748338134 scopus 로고    scopus 로고
    • Giant hepatocellular adenoma presenting with chronic iron deficiency anemia
    • Chung A., Leo K., Wong G., Chuah K., Ren J., and Lee C. Giant hepatocellular adenoma presenting with chronic iron deficiency anemia. Am J Gastroenterol 101 (2006) 2160-2162
    • (2006) Am J Gastroenterol , vol.101 , pp. 2160-2162
    • Chung, A.1    Leo, K.2    Wong, G.3    Chuah, K.4    Ren, J.5    Lee, C.6
  • 50
    • 0038662619 scopus 로고    scopus 로고
    • Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein
    • Nemeth E., Valore E.V., Territo M., Schiller G., Lichtenstein A., and Ganz T. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood 101 (2003) 2461-2463
    • (2003) Blood , vol.101 , pp. 2461-2463
    • Nemeth, E.1    Valore, E.V.2    Territo, M.3    Schiller, G.4    Lichtenstein, A.5    Ganz, T.6
  • 51
    • 2342510407 scopus 로고    scopus 로고
    • IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin
    • Nemeth E., Rivera S., Gabayan V., Keller C., Taudorf S., Pedersen B.K., et al. IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin. J Clin Invest 113 (2004) 1271-1276
    • (2004) J Clin Invest , vol.113 , pp. 1271-1276
    • Nemeth, E.1    Rivera, S.2    Gabayan, V.3    Keller, C.4    Taudorf, S.5    Pedersen, B.K.6
  • 52
    • 14744278436 scopus 로고    scopus 로고
    • Anemia of chronic disease
    • Weiss G., and Goodnough L.T. Anemia of chronic disease. N Engl J Med 352 (2005) 1011-1023
    • (2005) N Engl J Med , vol.352 , pp. 1011-1023
    • Weiss, G.1    Goodnough, L.T.2


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