β-thalassemia: HiJAKing ineffective erythropoiesis and iron overload

Advances in Hematology

Volumn 2010, Issue , 2010, Pages

  Rivella, Stefano ^a   Melchiori, Luca ^a   Gardenghi, Sara ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; HEPCIDIN; JANUS KINASE 2; JANUS KINASE 2 INHIBITOR;

APOPTOSIS; BETA THALASSEMIA; CELL EXPANSION; CELL PROLIFERATION; ENZYME PHOSPHORYLATION; ERYTHROID PRECURSOR CELL; ERYTHROPOIESIS; GENE ACTIVATION; GENE EXPRESSION; IRON ABSORPTION; IRON BALANCE; IRON BINDING CAPACITY; IRON KINETICS; IRON OVERLOAD; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SPLENOMEGALY;

EID: 77954568361     PISSN: 16879104     EISSN: 16879112     Source Type: Journal    
DOI: 10.1155/2010/938640     Document Type: Review

References (58)

1. Libani I. V., Guy E. C., Melchiori L., Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in -thalassemia Blood 2008 112 3 875 885
2. Adamsky K., Weizer O., Amariglio N., Decreased hepcidin mRNA expression in thalassemic mice British Journal of Haematology 2004 124 1 123 124
3. Breda L., Gardenghi S., Guy E., Exploring the role of hepcidin, an antimicrobial and iron regulatory peptide, in increased iron absorption in -thalassemia Annals of the New York Academy of Sciences 2005 1054 417 422
4. Gardenghi S., Marongiu M. F., Ramos P., Ineffective erythropoiesis in -thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin Blood 2007 109 11 5027 5035
5. Kattamis A., Papassotiriou I., Palaiologou D., The effects of erythropoetic activity and iron burden on hepcidin expression in patients with thalassemia major Haematologica 2006 91 6 809 812
6. Papanikolaou G., Tzilianos M., Christakis J. I., Hepcidin in iron overload disorders Blood 2005 105 10 4103 4105
7. Weizer-Stern O., Adamsky K., Amariglio N., Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera British Journal of Haematology 2006 135 1 129 138
8. Weizer-Stern O., Adamsky K., Amariglio N., mRNA expression of iron regulatory genes in -thalassemia intermedia and -thalassemia major mouse models American Journal of Hematology 2006 81 7 479 483
9. Rivella S., Ineffective erythropoiesis and thalassemias CurrOpinHematol 2009 16 3 187 194
10. Giardina P. J., Grady R. W., Chelation therapy in -thalassemia: an optimistic update Seminars in Hematology 2001 38 4 360 366
11. Crary S. E., Buchanan G. R., Vascular complications after splenectomy for hematologic disorders Blood 2009 114 14 2861 2868
12. Eldor A., Rachmilewitz E. A., The hypercoagulable state in thalassemia Blood 2002 99 1 36 43
13. Taher A., Mehio G., Isma'eel H., Cappellini M. D., Stroke in thalassemia: a dilemma American Journal of Hematology 2008 83 4 343
14. Taher A. T., Musallam K. M., Nasreddine W., Hourani R., Inati A., Beydoun A., Asymptomatic brain magnetic resonance imaging abnormalities in splenectomized adults with thalassemia intermedia Journal of Thrombosis and Haemostasis 2009 8 1 54 59
15. Chasis J. A., Erythroblastic islands: specialized microenvironmental niches for erythropoiesis Current Opinion in Hematology 2006 13 3 137 141
16. D'Andrea A., Fasman G., Wong G., Lodish H., Erythropoietin receptor: cloning strategy and structural features International Journal of Cell Cloning 1990 8 supplement 1 173 180 (Pubitemid 20305550)
17. Fang J., Menon M., Kapelle W., EPO modulation of cell-cycle regulatory genes, and cell division, in primary bone marrow erythroblasts Blood 2007 110 7 2361 2370
18. Wojchowski D. M., Gregory R. C., Miller C. P., Pandit A. K., Pircher T. J., Signal transduction in the erythropoietin receptor system Experimental Cell Research 1999 253 1 143 156
19. Neubauer H., Cumano A., Muller M., Wu H., Huffstadt U., Pfeffer K., Jak2 deficiency defines an essential developmental checkpoint in definitive hematopoiesis Cell 1998 93 3 397 409
20. Richmond T. D., Chohan M., Barber D. L., Turning cells red: signal transduction mediated by erythropoietin Trends in Cell Biology 2005 15 3 146 155
21. Bao H., Jacobs-Helber S. M., Lawson A. E., Penta K., Wickrema A., Sawyer S. T., Protein kinase B (c-Akt), phosphatidylinositol 3-kinase, and STAT5 are activated by erythropoietin (EPO) in HCD57 erythroid cells but are constitutively active in an EPO-independent, apoptosis-resistant subclone (HCD57-SREI cells) Blood 1999 93 11 3757 3773
22. Huddleston H., Tan B., Yang F.-C., Functional p85 gene is required for normal murine fetal erythropoiesis Blood 2003 102 1 142 145
23. Ghaffari S., Kitidis C., Zhao W., AKT induces erythroid-cell maturation of JAK2-deficient fetal liver progenitor cells and is required for Epo regulation of erythroid-cell differentiation Blood 2006 107 5 1888 1891
24. Marinkovic D., Zhang X., Yalcin S., Foxo3 is required for the regulation of oxidative stress in erythropoiesis Journal of Clinical Investigation 2007 117 8 2133 2144
25. Saharinen P., Takaluoma K., Silvennoinen O., Regulation of the Jak2 tyrosine kinase by its pseudokinase domain Molecular and Cellular Biology 2000 20 10 3387 3395
26. Baxter E. J., Scott L. M., Campbell P. J., Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders Lancet 2005 365 9464 1054 1061
27. James C., Ugo V., Le Couedic J.-P., Staerk J., A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera Nature 2005 434 7037 1144 1148 (Pubitemid 40663494)
28. Kralovics R., Passamonti F., Buser A. S., A gain-of-function mutation of JAK2 in myeloproliferative disorders New England Journal of Medicine 2005 352 17 1779 1790 (Pubitemid 40570926)
29. Levine R. L., Wadleigh M., Cools J., Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis Cancer Cell 2005 7 4 387 397
30. Zhao R., Xing S., Li Z., Identification of an acquired JAK2 mutation in polycythemia vera Journal of Biological Chemistry 2005 280 24 22788 22792
31. Centis F., Tabellini L., Lucarelli G., The importance of erythroid expansion in determining the extent of apoptosis in erythroid precursors in patients with -thalassemia major Blood 2000 96 10 3624 3629
32. Mathias L. A., Fisher T. C., Zeng L., Ineffective erythropoiesis in -thalassemia major is due to apoptosis at the polychromatophilic normoblast stage Experimental Hematology 2000 28 12 1343 1353
33. Schrier S. L., Pathophysiology of thalassemia Current Opinion in Hematology 2002 9 2 123 126
34. Perry J. M., Harandi O. F., Paulson R. F., BMP4, SCF, and hypoxia cooperatively regulate the expansion of murine stress erythroid progenitors Blood 2007 109 10 4494 4502
35. Wood A. D., Chen E., Donaldson I. J., ID1 promotes expansion and survival of primary erythroid cells and is a target of JAK2V617F-STAT5 signaling Blood 2009 114 9 1820 1830
36. Pardanani A., Hood J., Lasho T., TG101209, a small molecule JAK2-selective kinase inhibitor potently inhibits myeloproliferative disorder-associated JAK2V617F and MPLW515L/K mutations Leukemia 2007 21 8 1658 1668
37. Hentze M. W., Muckenthaler M. U., Andrews N. C., Balancing acts: molecular control of mammalian iron metabolism Cell 2004 117 3 285 297
38. Krause A., Neitz S., Magert H.-J., LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity FEBS Letters 2000 480 2-3 147 150
39. Park C. H., Valore E. V., Waring A. J., Ganz T., Hepcidin, a urinary antimicrobial peptide synthesized in the liver Journal of Biological Chemistry 2001 276 11 7806 7810
40. Abboud S., Haile D. J., A novel mammalian iron-regulated protein involved in intracellular iron metabolism Journal of Biological Chemistry 2000 275 26 19906 19912
41. Canonne-Hergaux F., Donovan A., Delaby C., Wang H.-J., Gros P., Comparative studies of duodenal and macrophage ferroportin proteins American Journal of Physiology 2006 290 1 G156 G163
42. Donovan A., Brownlie A., Zhou Y., Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter Nature 2000 403 6771 776 781
43. McKie A. T., Marciani P., Rolfs A., A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation Molecular Cell 2000 5 2 299 309
44. De Domenico I., Ward D. M., Langelier C., The molecular mechanism of hepcidin-mediated ferroportin down-regulation Molecular Biology of the Cell 2007 18 7 2569 2578
45. Nemeth E., Tuttle M. S., Powelson J., Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization Science 2004 306 5704 2090 2093
46. Pigeon C., Ilyin G., Courselaud B., A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during Iron overload Journal of Biological Chemistry 2001 276 11 7811 7819
47. Peyssonnaux C., Zinkernagel A. S., Schuepbach R. A., Regulation of iron homeostasis by the hypoxia-inducible transcription factors (HIFs) Journal of Clinical Investigation 2007 117 7 1926 1932
48. Yoon D., Pastore Y. D., Divoky V., Hypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse development Journal of Biological Chemistry 2006 281 35 25703 25711
49. Nemeth E., Rivera S., Gabayan V., IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin Journal of Clinical Investigation 2004 113 9 1271 1276
50. Nemeth E., Valore E. V., Territo M., Schiller G., Lichtenstein A., Ganz T., Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein Blood 2003 101 7 2461 2463
51. Nicolas G., Chauvet C., Viatte L., The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation Journal of Clinical Investigation 2002 110 7 1037 1044
52. Wrighting D. M., Andrews N. C., Interleukin-6 induces hepcidin expression through STAT3 Blood 2006 108 9 3204 3209
53. Pak M., Lopez M. A., Gabayan V., Ganz T., Rivera S., Suppression of hepcidin during anemia requires erythropoietic activity Blood 2006 108 12 3730 3735
54. Vokurka M., Krijt J., Sulc K., Necas E., Hepcidin mRNA levels in mouse liver respond to inhibition of erythropoiesis Physiological Research 2006 55 6 667 674
55. Tanno T., Bhanu N. V., Oneal P. A., High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin Nature Medicine 2007 13 9 1096 1101
56. Tanno T., Porayette P., Sripichai O., Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells Blood 2009 114 1 181 186
57. Ramirez J.-M., Schaad O., Durual S., Growth differentiation factor 15 production is necessary for normal erythroid differentiation and is increased in refractory anaemia with ring-sideroblasts British Journal of Haematology 2009 144 2 251 262
58. Kerenyi M. A., Grebien F., Gehart H., Stat5 regulates cellular iron uptake of erythroid cells via IRP-2 and TfR-1 Blood 2008 112 9 3878 3888