How we manage patients with hereditary haemochromatosis

British Journal of Haematology

Volumn 175, Issue 5, 2016, Pages 759-770

  Rombout Sestrienkova, Eva ^a,b   van Kraaij, Marian G J ^b   Koek, Ger H ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CENTRAL LABORATORY   (Netherlands)

Author keywords

erythrocytapheresis; hereditary haemochromatosis; phlebotomy; treatment

Indexed keywords

ALDOSTERONE ANTAGONIST; ANALGESIC AGENT; ASCORBIC ACID; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; COLCHICINE; CREATININE; DEFERASIROX; DEFERIPRONE; DEFEROXAMINE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; FERRITIN; HEMOJUVELIN; HEPCIDIN; HFE PROTEIN; INSULIN; IRON CHELATING AGENT; NONSTEROID ANTIINFLAMMATORY AGENT; ORAL ANTIDIABETIC AGENT; PROTON PUMP INHIBITOR;

ABDOMINAL PAIN; AGRANULOCYTOSIS; ALCOHOL ABSTINENCE; ANEMIA; APHERESIS; ARTHRALGIA; ARTHRITIS; CONGESTIVE HEART FAILURE; DIABETES MELLITUS; DIARRHEA; DIET RESTRICTION; DIZZINESS; ERYTHROCYTAPHERESIS; FAINTNESS; FATIGUE; FERRITIN BLOOD LEVEL; GENE MUTATION; HEADACHE; HEART ARRHYTHMIA; HEMATOMA; HEMOCHROMATOSIS; HFE GENE; HOMOZYGOSITY; HUMAN; HYPERFERRITINEMIA; HYPERTRANSAMINASEMIA; HYPOGONADISM; HYPOTHYROIDISM; HYPOVOLEMIA; IRON DEPLETION; IRON OVERLOAD; IRON STORAGE; LIVER BIOPSY; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER FIBROSIS; NAUSEA; NEUTROPENIA; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PAIN; PHLEBOTOMY; PRIORITY JOURNAL; RASH; RETINA DISEASE; REVIEW; SIDE EFFECT; VESTIBULOCOCHLEAR NERVE DISEASE; ANTAGONISTS AND INHIBITORS; CYTAPHERESIS; CYTOLOGY; DISEASE MANAGEMENT; ERYTHROCYTE;

CYTAPHERESIS; DISEASE MANAGEMENT; ERYTHROCYTES; HEMOCHROMATOSIS; HEPCIDINS; HUMANS; IRON CHELATING AGENTS; PROTON PUMP INHIBITORS;

EID: 84995701303     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.14376     Document Type: Review

References (99)

1. Adams, P.C. (1998) Factors affecting the rate of iron mobilization during venesection therapy for genetic hemochromatosis. American Journal of Hematology, 58, 16–19.
2. Adams, P.C. & Barton, J.C. (2010) How I treat hemochromatosis. Blood, 116, 317–325.
3. Adams, P.C., Kertesz, A.E. & Valberg, L.S. (1993) Rate of iron reaccumulation following iron depletion in hereditary hemochromatosis. Implications for venesection therapy. Journal of Clinical Gastroenterology, 16, 207–210.
4. Adams, P.C., Reboussin, D.M., Barton, J.C., Acton, R.T., Speechley, M., Leiendecker-Foster, C., Meenan, R., Passmore, L., McLaren, C.E., McLaren, G.D., Gordeuk, V., Dawkins, F. & Eckfeldt, J.H. (2008) Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hemochromatosis and Iron Overload Screening Study. International Journal of Laboratory Hematology, 30, 300–305.
5. Allen, K.J., Gurrin, L.C., Constantine, C.C., Osborne, N.J., Delatycki, M.B., Nicoll, A.J., McLaren, C.E., Bahlo, M., Nisselle, A.E., Vulpe, C.D., Anderson, G.J., Southey, M.C., Giles, G.G., English, D.R., Hopper, J.L., Olynyk, J.K., Powell, L.W. & Gertig, D.M. (2008) Iron-overload-disease in HFE hereditary hemochromatosis. New England Journal of Medicine, 358, 221–230.
6. Allen, K.J., Bertalli, N.A., Osborne, N.J., Constantine, C.C., Delatycki, M.B., Nisselle, A.E., Nicoll, A.J., Gertig, D.M., McLaren, C.E., Giles, G.G., Hopper, J.L., Anderson, G.J., Olynyk, J.K., Powell, L.W. & Gurrin, L.C.; for the Healthron Study Investigators. (2010) HFE C282Y homozygotes with serum ferritin concentrations below 1000 μg/l are et low risk of hemochromatosis. Hepatology, 52, 925–933.
7. Bacon, B.R., Adams, P.C., Kowdley, K.V., Powell, L.W. & Tavill, A.S. (2011) Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology, 54, 328–343.
8. Bardou-Jacquet, E., Philip, J., Lorho, R., Ropert, M., Latournerie, M., Houssel-Derby, P., Guyader, D., Loréal, O., Boudjema, K. & Brissot, P. (2014) Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis. Hepatology, 59, 839–847.
9. Bardou-Jacquet, E., Morcet, J., Manet, G., Laine, F., Perrin, M., Jouanolle, A.M., Guyader, D., Moirand, R., Viel, J.F. & Deugnier, Y. (2015) Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis. Journal of Hepatology, 62, 682–689.
10. Barton, J.C. (2007) Drug evaluation: deferitrin for iron overload disorders. Investigational Drugs Journal, 10, 480–490.
11. Barton, J.C. (2013) Hemochromatosis and iron overload: from bench to clinic. American Journal of the Medical Sciences, 346, 403–412.
12. Barton, J.C., Edwards, C.Q., Phatak, P.D., Britton, R.S. & Bacon, B.R. (2010) Iron toxicity. In: Handbook of Iron Overload Disorders (ed. by J.C. Barton, C.Q. Edwards, P.D. Phatak, R.S. Britton & B.R. Bacon), pp. 28–33. Cambridge University Press, Cambridge, England.
13. Basset, M.L., Halliday, J.W., Ferris, R.A. & Powell, L.W. (1984) Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests. Gastroenterology, 87, 628–633.
14. Bomford, A. & Williams, R. (1976) Long term results of venesection therapy in idiopathic haemochromatosis. Quarterly Journal of Medicine, 45, 611–623.
15. Borsari, M., Gabbi, C., Ghelfi, F., Grandi, R., Saladini, M., Severi, S. & Borella, F. (2001) Silybin, a new iron-chelating agent. Journal of Inorganic Biochemistry, 85, 123–129.
16. Brissot, P. (2016) Optimizing the diagnosis and the treatment of iron overload diseases. Expert Review of Gastroenterology & Hepatology, 10, 359–370.
17. Brissot, P., Ball, S., Rofail, D., Cannon, H. & Jin, V.W. (2011) Hereditary hemochromatosis: patient experiences of the disease and phlebotomy treatment. Transfusion, 51, 1331–1338.
18. Burke, W., Imperatore, G., McDonnel, S.M., Baron, R.C. & Khoury, M.J. (2000) Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genetics In Medicine, 2, 271–277.
19. Cade, J.E., Moreton, J.A., O'Hara, B., Greenwood, D.C., Moor, J., Burley, V.J., Kukalizch, K., Bishop, D.T. & Worwood, M. (2005) Diet and genetic factors associated with iron status in middle-aged women. American Journal of Clinical Nutrition, 82, 813–820.
20. Canҫado, R., Melo, M.R., de Moraes Bastos, R., Santos, P.C.J.L., Guerra-Shinohara, E.M., Chiattone, C. & Ballas, S.K. (2015) Deferasirox in patients with iron overload secondary to hereditary hemochromatosis: results of a 1-yr phase 2 study. European Journal of Haematology, 95, 545–550.
21. Conte, D., Brunelli, L., Bozzani, A., Tidone, L., Quatrini, M. & Bianchi, P.A. (1983) Erythrocytapheresis in idiopathic haemochromatosis. British Medical Journal (Clin Res Ed), 286, 939.
22. Conte, D., Mandelli, C., Cesana, M., Ferrini, R., Marconi, M. & Bianchi, A. (1989) Effectiveness of erythrocytapheresis in idiopathic hemochromatosis. Report of 14 cases. International Journal of Artificial Organs, 12, 59–62.
23. Davis, W.D. Jr & Arrowsmith, W.R. (1950) The effect of repeating bleeding in hemochromatosis. Journal of Laboratory and Clinical Medicine, 36, 814–815.
24. Desgrippes, R., Lainé, F., Morcet, J., Perrin, M., Manet, G., Jezequel, C., Bardou-Jacquet, E., Ropert, M. & Deugnier, Y. (2013) Decreased iron burden in overweight C282Y homozygous women: putative role of increased hepcidin production. Hepatology, 57, 1784–1792.
25. Diwakaran, H.H., Befeler, A.S., Britton, R.S., Brunt, E.M. & Bacon, B.R. (2002) Accelerated hepatic fibrosis in patients with combined hereditary hemochromatosis and chronic hepatitis C infection. Journal of Hepatology, 36, 687–691.
26. Drakesmith, H., Schimanski, L.M., Ormerod, E., Merryweather-Clarke, A.T., Viprakasit, V., Edwards, J.P., Sweetland, E., Bastin, J.M., Cowley, D., Chinthammitr, Y., Robson, K.J. & Townsend, A.R. (2005) Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood, 106, 1092–1097.
27. European Association for the Study of the liver (EASL). (2010) EASL clinical practice guidelines for HFE hemochromatosis. Journal of Hepatology, 53, 3–22.
28. Evers, D., Kerkhoffs, J.L., Van Egmond, L., Schipperus, M.R. & Wijermans, P.W. (2014) The efficiency of therapeutic erythrocytapheresis compared to phlebotomy: a mathematical tool for predicting respons in hereditary hemochromatosis, polycythemia vera, and secondary erythrocytosis. Journal of Clinical Apheresis, 29, 133–138.
29. Fabio, G. (2007) Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH). Blood, 109, 362–364.
30. Falize, L., Guillygomarc'h, A., Perrin, M., Lainé, F., Guyader, D., Brissot, P., Turlin, B. & Deugnier, Y. (2006) Reversibility of hepatic fibrosis in trated genetic hemochromatosis: a study of 36 cases. Hepatology, 44, 472–477.
31. Fernandez-Mosteirin, N., Salvador-Osuna, C., Garcia-Erce, J.A., Orna, E., Perez-Lungmus, G. & Giralt, M. (2006) Comparison between phlebotomy and erythrocytapheresis of iron overload in patients with HFE gene mutations. Medicina Clinica (Barc), 127, 409–412.
32. Fletcher, L.M., Dixon, J.L., Purdie, D.M., Powell, L.W. & Crawford, D.H. (2002) Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology, 122, 281–289.
33. Fung, E. & Nemeth, E. (2013) Manipulation of the hepcidin pathway for therapeutic purposes. Haematologica, 98, 1667–1676.
34. Gandon, Y., Olivié, D., Guyader, D., Aubé, C., Oberti, F., Sebille, V. & Deugnier, Y. (2004) Non-invasive assessment of hepatic iron stores by MRI. Lancet, 363, 357–362.
35. Ganz, T. (2003) Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation. Blood, 102, 783–788.
36. Girelli, D., Trombini, P., Bust, F., Campostrini, N., Sandri, M., Pelucchi, S., Westerman, M., Ganz, T., Nemeth, E., Piperno, A. & Camaschella, C. (2011) A time course of hepcidine response to iron challenge in patients with HFE and TFR2 hemochromatosis. Haematologica, 94, 500–506.
37. Gurrin, L.C., Osborne, N.J., Constantine, C.C., McLaren, C.E., English, D.R., Gertig, D.M., Delatycki, M.B., Southey, M.C., Hopper, J.L., Giles, G.G., Anderson, G.J., Olynyk, J.K., Powell, L.W. & Allen, K.J.; HealthIron Study Investigators. (2008) The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology, 135, 1945–1952.
38. Harmatz, P., Grady, R.W., Dragsten, P., Vichinsky, E., Giardina, P., Madden, J., Jeng, M., Miller, B., Hanson, G. & Hedlund, B. (2007) Phase Ib clinical trial of starch-conjugated deferoxamine (40SD02): a novel long-acting iron chelator. British Journal of Haematology, 138, 374–381.
39. Harrison, S.A. & Bacon, B.R. (2003) Hereditary hemochromatosis, update for 2003. Journal of Hepatology, 38, 14–23.
40. Hicken, B.L., Tucker, D.C. & Barton, J.C. (2003) Patient compliance with phlebotomy therapy for iron overload associated with hemochromatosis. American Journal of Gastroenterology, 98, 2072–2077.
41. Hutchinson, C., Geissler, C.A., Powwel, J.J. & Bomford, A. (2007) Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis. Gut, 56, 1291–1295.
42. Hutchinson, C., Bomford, A. & Geissler, A. (2010) The iron-chelating potential of silybin in patients with hereditary hemochromatosis. European Journal of Clinical Nutrition, 64, 1239–1241.
43. Janssen, M.C.H. & Swinkels, D.W. (2009) Hereditary haemochromatosis. Best Practice Research Clinical Gastroenterology, 23, 171–183.
44. Jensen, P.D., Bagger, J.P., Jensen, F.T., Baandrup, U., Christensen, T. & Ellegaard, J. (1993) Heart transplantation in a case of juvenile hereditary haemochromatosis followed up by MRI and endomyocardial biopsies. European Journal of Haematology, 51, 199–205.
45. Jesup, M., Abraham, W.T., Casey, D.E., Feldman, A.M., Francis, G.S., Ganiats, T.G., Konstam, M.A., Mancini, D.M., Rahko, P.S., Silver, M.A., Stevenson, L.W. & Yancy, C.W. (2009) 2009 focused update: ACCF/AHA Guidelines for Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation. Circulation, 119, 1977–2016.
46. Kaltwasser, J.P., Werner, E., Schalk, K., Hansen, C., Gottschalk, R. & Seidl, C. (1998) Clinical trial on the effect of regular tea drinking on iron accumulation in genetic hemochromatosis. Gut, 43, 699–704.
47. Kanwar, P. & Kowdley, K.W. (2013) Diagnosis and treatment of hereditary hemochromatosis: an update. Expert Review of Gastroenterology & Hepatology, 7, 517–530.
48. Kellner, H. & Zoller, W.G. (1992) Repeated isovolemic large-volume erythrocytapheresis in the treatment of idiopathic hemochromatosis. Zeitschrift für Gastroenterologie, 30, 779–783.
49. Kohan, A., Niborski, R., Daruich, J., Rey, J., Bastos, F., Amerise, G., Herrera, R., Garcia, M., Olivera, W., Santarelli, M.T., Avalos, J.S. & Findor, J. (2000) Erythrocytapheresis with recombinant human erythropoietin in hereditary hemochromatosis therapy: a new alternative. Vox Sanguinis, 79, 40–45.
50. Krijt, J., Cmejla, R., Sykora, V., Vokurka, M., Vyoral, D. & Necas, E. (2004) Different expression patern of hepcidin genes in the liver and pancreas of C57BL/6N and DBA/2N mice. Journal of Hepatology, 40, 891–896.
51. Kumfu, S., Chattipakorn, S., Chinda, K., Fucharoen, S. & Chattipakorn, N. (2012) T-type calcium channel blockade improves survival and cardiovascular function in thalassemic mice. European Journal of Haematology, 88, 535–548.
52. Lee, G. & Arepally, G.M. (2012) Anticoagulation techniques in apheresis: from heparin to citrate and beyond. Journal of Clinical Apheresis, 27, 117–125.
53. Legros, L., Bardou-Jacquet, E., Latournerie, M., Guillygomarc'h, A., Turlin, B., Le Lan, C., Désille, Y., Lainé, F., Moirand, R., Brissot, P., Deugnier, Y. & Guyader, D. (2015) Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis. Liver International, 35, 1731–1738.
54. Lynch, S.R., Skikne, B.S. & Cook, J.D. (1989) Food iron absorption in idiopathic hemochromatosis. Blood, 74, 2187–2193.
55. Manet, G., Bardou-Jacquet, E., Perin, N., Morcet, J., Sinteff, J.P., Laine, F., Moirand, R. & Deugnier, Y. (2013) The iron reabsorption index: a new phenotypic and pathophysiological descriptor in HFE hemochromatosis. European Journal of Gastroenterology & Hepatology, 25, 1321–1329.
56. Mariani, R., Pelucchi, S., Perseghin, P., Corengia, C. & Piperno, A. (2005) Erythrocytapheresis plus erythropoietin: an alternative therapy for selected patients with hemochromatosis and severe organ damage. Haematologica, 90, 717–718.
57. McDonnell, S.M., Grindon, A.J., Preston, B.L., Barton, J.C., Edwards, C.Q. & Adams, P.C. (1999) A survey of phlebotomy among persons with hemochromatosis. Transfusion, 39, 651–656.
58. Milet, J., Dehais, V., Bourgain, C., Jouanolle, A.M., Mosser, A., Perrin, M., Morcet, J., Brissot, P., David, V., Deugnier, Y. & Mosser, J. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. American Journal of Human Genetics, 81, 799–807.
59. Milman, N., Pederson, P., á Steig, T., Byg, K.E., Gradual, N. & Fenger, K. (2001) Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Annals of Hematology, 80, 737–744.
60. Milward, E.A., Baines, S.K., Knuiman, M.W., Bartholomew, H.C., Divitini, M.L., Ravine, D.G., Bruce, D.G. & Olynyk, J.K. (2008) Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations. Mayo Clinic Proceedings, 83, 543–549.
61. Moirand, R., Jouanolle, A.M., Brissot, P., Le Gall, J.Y., David, V. & Deugnier, Y. (1999) Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives. Gastroenterology, 116, 372–377.
62. Muncunill, J., Vaquer, P., Galmes, A., Obrador, A., Parera, M., Bargay, J. & Besalduch, J. (2002) In hereditary hemochromatosis, red cell apheresis removes excess iron twice as fast as manual whole blood phlebotomy. Journal of Clinical Apheresis, 17, 88–92.
63. Nagler, M., Gregor, M. & Wuillemin, W.A. (2011) Iron chelation with deferasirox in two patients with HFE hemochromatosis and chronic anemia. Acta Haematologica, 126, 119–121.
64. Niederau, C., Fisher, R., Pursuchel, A., Stremmel, W., Haussinger, D. & Strohmayer, G. (1996) Long-term survival in patients with hereditary hemochromatosis. Gastroenterology, 110, 1107–1119.
65. Nienhuis, A.W. (1981) Vitamin C and iron (editorial). New England Journal of Medicine, 304,170–171.
66. Ong, S.Y., Dolling, L., Dixon, J.L., Nicoll, A.J., Gurrin, L.C., Wolthuizen, M., Wood, E.M., Anderson, G.J., Ramm, G.A., Allen, K.J., Olynyk, J.K., Crawford, D., Kava, J., Ramm, L.E., Gow, P., Durrant, S., Powell, L.W. & Delatycki, M.B. (2015) Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomized controlled trial comparing iron reduction with sham treatment (Mi-iron). BMJ Open 5:e008938. Doi:10.1136/bmjopen-2015-008938
67. Park, C.H., Valore, E.V., Waring, A.J. & Ganz, T. (2001) Hepcidin, a urinary antimicrobial peptide synthesized in the liver. Journal of Biological Chemistry, 276, 7806–7810.
68. Pauwels, N.S., De Buck, E., Compernolle, V. & Vandekerckhove, P. (2013) Worldwide policies on haemochromatosis and blood donation: a survey among blood services. Vox Sanguinis, 105, 121–128.
69. Phatak, P., Brissot, P., Wurster, M., Adams, P., Bonkovsky, H.L., Gross, J., Malfertheiner, P., McLaren, G.D., Niederau, C., Piperno, A., Powell, L.W., Russo, M.W., Stoelzel, U., Stremmel, W., Griffel, L., Lynch, N., Zhang, Y. & Pietrangelo, A. (2010) A phase ½ dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology, 52, 1671–1679.
70. Pietrangelo, A. (2010) Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology, 139, 393–408.
71. Pigeon, C., Ilyin, G., Courselaud, B., Leroyer, P., Turlin, B., Brissot, P. & Loréal, O. (2001) A new mouse liver-specific gene, enconding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. Journal of Biological Chemistry, 276, 7811–7819.
72. Piperno, A., Girelli, D., Nemeth, E., Trombini, P., Bozzini, C., Poggiali, E., Phung, Y., Ganz, T. & Camaschella, C. (2007) Blunted hepcidine response to oral iron challenge in HFE–related hemochromatosis. Blood, 110, 4096–4100.
73. Popovsky, M.A. (2004) Complications of blood donation: manual and automated blood collection procedures. Transfusion Medicine and Hemotherapy, 31, 49–53.
74. Porto, G., Brissot, P., Swinkels, D.W., Zoller, H., Kamarainen, O., Patton, S., Alonso, I., Morris, M. & Keeney, S. (2016) EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). European Journal of Human Genetics, 24, 479–495.
75. Poullin, P. & Lefevre, P.A. (2011) Effectiveness of therapeutic erythrocytapheresis to achieve iron depletion in hereditary type 1 hemochromatosis: report of 30 cases. Transfusion Clinique et Biologique, 18, 553–558.
76. Powell, E.E., Ali, A., Clouston, A.D., Dixon, J.L., Lincoln, D.J., Purdie, D.M., Fletcher, L.M., Powell, L.W. & Jonsson, J.R. (2005) Steatosis is a cofactor in liver injury in hemochromatosis. Gastroenterology, 129, 1937–1943.
77. Powell, L.W., Seckington, R.C. & Deugnier, Y. (2016) Haemochromatosis. Lancet, doi:10.1016/S0140-6736(15)01315-X
78. Rehácek, V., Bláha, M., Jirousová, H., Cernohorská, J. & Papousek, P. (2012) Therapeutic erythrocytapheresis in the initial treatment of hereditary hemochromatosis. Acta Medica, 55, 180–185.
79. Rombout-Sestrienkova, E., van Noord, P.A., van Deursen, C.T., Sybesma, B.J., Nillesen-Meertens, A.E. & Koek, G.H. (2007) Therapeutic erythrocytapheresis versus phlebotomy in the initial treatment of hereditary hemochromatosis- A pilot study. Transfusion and Apheresis Science, 36, 261–267.
80. Rombout-Sestrienkova, E., Nieman, F.H., Essers, B.A., van Noord, P.A., Janssen, M.C., van Deursen, C.T., Bos, L.P., Rombout, F., van den Braak, R., de Leeuw, P.W. & Koek, G.H. (2012) Erythrocytapheresis versus phlebotomy in the initial treatment of HFE hemochromatosis: results from a randomised trial. Transfusion, 52, 470–477.
81. Rombout-Sestrienkova, E., De Jonge, N., Martinakova, K., Klöpping, C., van Galen, K.P., Vink, A., Wajon, E.M., Smit, W.M., van Bree, C. & Koek, G.H. (2014) End-stage cardiomyopathy because of hereditary hemochromatosis successfully treated with erythrocytapheresis in combination with left ventricular assist device support. Circulation Heart Failure, 7, 541–543.
82. Rombout-Sestrienkova, E., Koek, G.H., Neslo, R., van Kraaij, M., Menheere, P.P., Masclee, A. & Swinkels, D.W. (2016a) Course of iron parameters in HFE-hemochromatosis patients during initial treatment with erythrocytapheresis compared to phlebotomy. Journal of Clinical Apheresis, doi:10.1002/jca.21451
83. Rombout-Sestrienkova, E., Winkens, B., Essers, B.A.B., Nieman, F.H., Noord, P.A., Janssen, M.C., van Deursen, C.T., Boonen, A., Reuser-Kaasenbrood, E.P., Heeremans, J., van Kraaij, M., Masclee, A. & Koek, G.H. (2016b) Erythrocytapheresis versus phlebotomy in the maintenance treatment of HFE hemochromatosis patients: results from a randomised crossover trial. Transfusion, 56, 261–270.
84. Sarigianni, M., Liakos, A., Vlachaki, E., Paschos, P., Athanasiadou, E., Montori, V.M., Murad, M.H. & Tsapas, A. (2014) Accuracy of magnetic resonance imaging in diagnosis of liver iron overload: a systemic review and meta-analysis. Clinical Gastroenterology and Hepatology, doi:10.1016/j.cgh.2014.05.027
85. Schimanski, L.M., Drakesmith, H., Merryweather-Clarke, A.T., Viprakasit, V., Edwards, J.P., Sweetland, E., Bastin, J.M., Cowley, D., Chinthammitr, Y., Robson, K.J. & Townsend, A.R. (2005) In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood, 105, 4096–4102.
86. Schofield, R.S., Aranda, J.M., Hill, J.A. & Streiff, R. (2000) Cardiac transplantation in a patient with hereditary hemochromatosis: role of adjunctive phlebotomy and erythropoietin. Journal of heart and Lung Transplantation, 20, 696–698.
87. Schwartz, J., Winters, J.L., Padmanabhan, A., Balogun, R.A., Delaney, M., Linenberger, M.L., Szczepiorkowski, Z.M., Williams, M.E., Wu, Y. & Shaz, B.H. (2013) Guidelines on the use of therapeutic apheresis in clinical practice-evidence-based approach from the writing committee of the American society for apheresis: the sixth special issue. Journal of Clinical Apheresis, 28, 145–284.
88. Scotet, V., Mérour, M.C., Mercier, A.Y., Chanu, B., Le Faou, T., Raguénes, O., Le Gac, G., Mura, C., Nousbaum, J.B. & Férec, C. (2003) Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation. American Journal of Epidemiology, 158, 129–134.
89. Stefashyna, O., Stern, M., Infanti, L., Holbro, A., Tichelli, A., Buser, A. & O'Meara, A. (2014) Pattern of care of blood donors with early-uncomplicated hereditary haemochromatosis in a Swiss blood donation centre. Vox Sanguinis, 106, 111–117.
90. Sundic, T., Hervig, T., Hannisdal, S., Assmus, J., Ulvik, R.J., Olaussen, R.W. & Berentsen, S. (2014) Erythrocytapheresis compared with whole blood phlebotomy for the treatment of hereditary haemochromatosis. Blood Transfusion, 12, s84–s89.
91. Swinkels, D.W., Aalbers, N., Elving, L.D., Bleijenberg, G., Swanink, C.M. & van de Meer, J.W. (2002) Primary hemochromatosis: a missed cause of chronic fatigue syndrome? Netherlands Journal of Medicine, 60, 429–433.
92. Van Aerts, R.M.M., van Deursen, CT & Koek, G.H. (2016) Proton pump inhibitors reduce the frequency of phlebotomy in patients with hereditary hemochromatosis. Clinical Gastroenterology and Hepatology, 14, 147–152.
93. Van Dijk, B.A., Laarakkers, C.M., Klaver, S.M., Jacobs, E.M., van Tits, L.J., Janssen, M.C. & Swinkels, D.W. (2008) Serum hepcidin levels are innately low in HFE- related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels. British Journal of Haematology, 142, 979–985.
94. Van Onna, M., van Asbeck, B.S. & Jacobs, J.W. (2011) Rusty joints. British Medical Journal, 342, d6197.
95. Verhaegh, P.L.M., Moris, W., Koek, G.H. & van Deursen, CT (2016) The modified iron avidity index: a promising phenotypic predictor in HFE-related haemochromatosis. Liver International, doi:10.1111/liv.13121
96. Wijermans, P., van Egmond, L., Ypma, P., Kerkhoffs, J.L., Schipperus, M., Bohmer, L. & Agteresch, E. (2009) Isovolemic erythrocytapheresis technique as an alternative to conventional phlebotomy in patients with polycythemia rubra vera and hemochromatosis. Transfusion and Apheresis Science, 40, 137.
97. Wiltbank, T. (2002) Donor reaction rates: a preliminary comparison of automated vs. whole blood procedures. Transfusion, 42, 675.
98. Wojcik, J.P., Speechley, M.R., Kerstesz, A.E., Chakrabarti, S. & Adams, P.C. (2002) Natural history of C282Y homozygotes for hemochromatosis. Canadian Journal of Gastroenterology, 16, 297–302.
99. Zoller, W.G., Kellner, H. & Spengel, F.A. (1988) Erythrocytapheresis. A method for rapid extracorporeal elimination of erythrocytes. Results in 65 patients. Klinische Wochenschrift, 66, 404–409.