Hepcidin is suppressed by erythropoiesis in hemoglobin e β-thalassemia and β-thalassemia trait

Blood

Volumn 125, Issue 5, 2015, Pages 873-880

  Jones, Emma ^a   Pasricha, Sant Rayn ^a   Allen, Angela ^b   Evans, Patricia ^c   Fisher, Chris A ^a   Wray, Katherine ^a   Premawardhena, Anuja ^d   Bandara, Dyananda ^e   Perera, Ashok ^e   Webster, Craig ^f   Sturges, Pamela ^f   Olivieri, Nancy F ^g   St Pierre, Timothy ^h   Armitage, Andrew E ^a   Porter, John B ^c   Weatherall, David J ^a   Drakesmith, Hal ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b SWANSEA UNIVERSITY   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF KELANIYA   (Sri Lanka)

^e District Hospital   (Sri Lanka)

^f BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^g UNIVERSITY HEALTH NETWORK   (Canada)

^h UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; DEFEROXAMINE; FERRITIN; GROWTH DIFFERENTIATION FACTOR 15; HEMOGLOBIN; HEMOGLOBIN ALPHA CHAIN; HEMOGLOBIN E; HEMOGLOBIN F; HEPCIDIN; IRON; TRANSFERRIN; HAMP PROTEIN, HUMAN; HEMOGLOBIN BETA CHAIN;

ADOLESCENT; ADULT; ARTICLE; BETA THALASSEMIA; CHILD; COHORT ANALYSIS; CORRELATION ANALYSIS; CROSS-SECTIONAL STUDY; ERYTHROPOIESIS; FEMALE; FERRITIN BLOOD LEVEL; HEMOGLOBIN BLOOD LEVEL; HEMOGLOBINOPATHY; HUMAN; IRON BLOOD LEVEL; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SPLENECTOMY; SRI LANKAN; ADVERSE EFFECTS; BETA-THALASSEMIA; BLOOD TRANSFUSION; CASE CONTROL STUDY; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; HETEROZYGOTE; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PRESCHOOL CHILD; SEVERITY OF ILLNESS INDEX; SRI LANKA; STATISTICAL MODEL;

ADOLESCENT; ADULT; BETA-GLOBINS; BETA-THALASSEMIA; BLOOD TRANSFUSION; CARRIER STATE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; ERYTHROPOIESIS; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; HEMOGLOBIN E; HEPCIDINS; HUMANS; IRON; IRON OVERLOAD; LINEAR MODELS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SRI LANKA;

EID: 84921873728     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-10-606491     Document Type: Article

References (42)

1. Vichinsky E. Hemoglobin e syndromes. Hematology (Am Soc Hematol Educ Program). 2007;79-83.
2. Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331-4336.
3. Fucharoen S, Weatherall DJ. Hemoglobin E thalassemia. In: Weatherall DJ, Schechter AN, Nathan DJ, eds. Hemoglobin and its disorders. Cold Spring Harbor Laboratory Press; 2013:229-244.
4. Premawardhena A, Fisher CA, Olivieri NF, et al. Haemoglobin E beta thalassaemia in Sri Lanka. Lancet. 2005;366(9495):1467-1470.
5. Borgna-Pignatti C, Cappellini MD, De Stefano P, et al. Survival and complications in thalassemia. Ann N Y Acad Sci. 2005;1054:40-47.
6. Musallam KM, Cappellini MD, Wood JC, Taher AT. Iron overload in non-transfusion-dependent thalassemia: a clinical perspective. Blood Rev. 2012;26(Suppl 1):S16-S19.
7. Ganz T, Nemeth E. The hepcidin-ferroportin system as a therapeutic target in anemias and iron overload disorders. Hematology Am Soc Hematol Educ Program. 2011;2011:538-542.
8. Nicolas G, Chauvet C, Viatte L, et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J Clin Invest. 2002;110(7):1037-1044.
9. Origa R, Galanello R, Ganz T, et al. Liver iron concentrations and urinary hepcidin in beta-thalassemia. Haematologica. 2007;92(5): 583-588.
10. Gardenghi S, Marongiu MF, Ramos P, et al. Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and upregulation of ferroportin. Blood. 2007;109(11): 5027-5035.
11. Papanikolaou G, Tzilianos M, Christakis JI, et al. Hepcidin in iron overload disorders. Blood. 2005; 105(10):4103-4105.
12. Kearney SL, Nemeth E, Neufeld EJ, et al. Urinary hepcidin in congenital chronic anemias. Pediatr Blood Cancer. 2007;48(1):57-63.
13. Kattamis A, Papassotiriou I, Palaiologou D, et al. The effects of erythropoetic activity and iron burden on hepcidin expression in patients with thalassemia major. Haematologica. 2006;91(6): 809-812.
14. Camberlein E, Zanninelli G, Détivaud L, et al. Anemia in beta-thalassemia patients targets hepatic hepcidin transcript levels independently of iron metabolism genes controlling hepcidin expression. Haematologica. 2008;93(1):111-115.
15. Adamsky K, Weizer O, Amariglio N, et al. Decreased hepcidin mRNA expression in thalassemic mice. Br J Haematol. 2004;124(1): 123-124.
16. Pasricha SR, Frazer DM, Bowden DK, Anderson GJ. Transfusion suppresses erythropoiesis and increases hepcidin in adult patients with β-thalassemia major: a longitudinal study. Blood. 2013;122(1):124-133.
17. Kassebaum NJ, Jasrasaria R, Naghavi M, et al. A systematic analysis of global anemia burden from 1990 to 2010. Blood. 2014;123(5):615-624.
18. Essential Nutrition Actions WHO. Improving maternal, newborn, infant and young child health and nutrition. Geneva: World Health Organization; 2013.
19. Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6): 480-487.
20. Zimmermann MB, Fucharoen S, Winichagoon P, et al. Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or beta-thalassemia and in compound heterozygotes for HbE/beta-thalassemia. Am J Clin Nutr. 2008; 88(4):1026-1031.
21. Fisher CA, Premawardhena A, de Silva S, et al; Sri Lanka Thalassaemia Study Group. The molecular basis for the thalassaemias in Sri Lanka. Br J Haematol. 2003;121(4):662-671.
22. Olivieri NF, Muraca GM, O'Donnell A, Premawardhena A, Fisher C, Weatherall DJ. Studies in haemoglobin E beta-thalassaemia. Br J Haematol. 2008;141(3):388-397.
23. St Pierre TG, Clark PR, Chua-anusorn W, et al. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood. 2005;105(2):855-861.
24. Evans RW, Williams J. The electrophoresis of transferrins in urea/polyacrylamide gels. Biochem J. 1980;189(3):541-546.
25. Singh S, Hider RC, Porter JB. A direct method for quantification of non-transferrin-bound iron. Anal Biochem. 1990;186(2):320-323.
26. Esposito BP, Breuer W, Sirankapracha P, Pootrakul P, Hershko C, Cabantchik ZI. Labile Pootrakul P, Hershko C, Cabantchik ZI. Labile plasma iron in iron overload: redox activity and susceptibility to chelation. Blood. 2003;102(7): 2670-2677.
27. Le Lan C, Loréal O, Cohen T, et al. Redox active plasma iron in C282Y/C282Y hemochromatosis. Blood. 2005;105(11):4527-4531.
28. Pasricha SR, Atkinson SH, Armitage AE, et al. Expression of the iron hormone hepcidin distinguishes different types of anemia in African children. Sci Transl Med. 2014;6(235):235re3.
29. Talbot NP, Lakhal S, Smith TG, et al. Regulation of hepcidin expression at high altitude. Blood. 2012;119(3):857-860.
30. Cappellini MD, Cohen A, Eleftheriou A, et al. Thalassaemia intermedia and HbE. In: Guidelines for the Clinical Management of Thalassaemia. 2nd ed. Nicosia, Cyprus: Thalassaemia International Federation; 2008:121-131.
31. Pootrakul P, Kitcharoen K, Yansukon P, et al. The effect of erythroid hyperplasia on iron balance. Blood. 1988;71(4):1124-1129.
32. Fouladi M, Macmillan ML, Nisbet-Brown E, et al. Hemoglobin E/beta thalassemia: the Canadian experience. Ann N Y Acad Sci. 1998;850: 410-411.
33. Suresh S, Fisher C, Ayyub H, et al. Alpha thalassaemia and extended alpha globin genes in Sri Lanka. Blood Cells Mol Dis. 2013;50(2):93-98.
34. Allen A, Fisher C, Premawardhena A, et al. Adaptation to anemia in hemoglobin E-β thalassemia. Blood. 2010;116(24):5368-5370.
35. Kautz L, Jung G, Valore EV, Rivella S, Nemeth E, Ganz T. Identification of erythroferrone as an erythroid regulator of iron metabolism. Nat Genet. 2014;46(7):678-684.
36. Pratummo K, Jetsrisuparb A, Fucharoen S, Tripatara A. Hepcidin expression from monocyte of splenectomized and non-splenectomized patients with HbE-β-thalassemia. Hematology. 2014;19(3):175-180.
37. Thein SL. Pathophysiology of beta thalassemia - a guide to molecular therapies. Hematology (Am Soc Hematol Educ Program). 2005;31-37.
38. Tassiopoulos T, Konstantopoulos K, Tassiopoulos S, et al. Erythropoietin levels and microcytosis in heterozygous beta-thalassaemia. Acta Haematol. 1997;98(3):147-149.
39. Prentice AM, Doherty CP, Abrams SA, et al. Hepcidin is the major predictor of erythrocyte iron incorporation in anemic African children. Blood. 2012;119(8):1922-1928.
40. Guimarães JS, Cominal JG, Silva-Pinto AC, et al. Altered erythropoiesis and iron metabolism in carriers of thalassemia [published online ahead of print October 11, 2014]. Eur J Haematol.
41. Piperno A, Mariani R, Arosio C, et al. Haemochromatosis in patients with beta-thalassaemia trait. Br J Haematol. 2000;111(3): 908-914.
42. Gardenghi S, Ramos P, Marongiu MF, et al. Hepcidin as a therapeutic tool to limit iron overload and improve anemia in β-thalassemic mice. J Clin Invest. 2010;120(12):4466-4477.