血色素沉着病

Brissot P, de Bels F. Current approaches to the management of hemochromatosis. Hematology Am Soc Hematol Educ Program. 2006;36-41.

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European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol. 2010;53:3-22.

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Griffiths WJ. Review article: the genetic basis of haemochromatosis. Aliment Pharmacol Ther. 2007;26:331-342.

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Haute Autorité de Santé (France). Management of patients with HFE-related haemochromatosis (type 1 haemochromatosis). July 2005. http://www.has-sante.fr/ (last accessed 8 July 2016).

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U.S. Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern Med. 2006;145:204-208.

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Bryant J, Cooper K, Picot J, et al. Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation. Health Technol Assess. 2009;13:iii, ix-xi, 1-126.

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Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54:328-343.

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1.  McCune CA, Ravine D, Carter K, et al. Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients. Gut. 2006;55:554-562.

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2.  Brissot P, de Bels F. Current approaches to the management of hemochromatosis. Hematology Am Soc Hematol Educ Program. 2006;36-41.

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3.  Olynyk JK, Cullen DJ, Aquilia S, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999;341:718-724.

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4.  European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol. 2010;53:3-22.

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5.  Whitlock EP, Garlitz BA, Harris EL, et al. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2006;145:209-223.

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6.  Perez R, Toro D, Fournier J, et al. Prevalence of hemochromatosis in the Puerto Rico veteran population. P R Health Sci J. 2007;26:147-150.

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7.  Pietrangelo A. Hereditary hemochromatosis. Biochim Biophys Acta. 2006;1763:700-710.

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8.  Terzic R, Sehic A, Teran N, et al. Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina. Coll Antropol. 2006;30:555-557.

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9.  Cimburova M, Putova I, Provaznikova H, et al. S65C and other mutations in the haemochromatosis gene in the Czech population. Folia Biol (Praha). 2005;51:172-176.

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10.  Leone PE, Gimenez P, Collantes JC, et al. Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population. Ann Hematol. 2005;84:103-105.

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11.  Scotet V, Le Gac G, Mérour MC, et al. Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data. BMC Med Genet. 2005;6:24.

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12.  Pardo A, Quintero E, Barrios Y, et al. Genotype and phenotypic expression of hereditary hemochromatosis in Spain [in Spanish]. Gastroenterol Hepatol 2004;27:437-443.

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13.  Sassi R, Hmida S, Kaabi H, et al. Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population. Ann Genet. 2004;47:325-330.

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14.  Wrede CE, Hutzler S, Bollheimer LC, et al. Correlation between iron status and genetic hemochromatosis (codon C282Y) in a large German population. Isr Med Assoc J. 2004;6:30-33.

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15.  Milman N, Pedersen P, Steig T, et al. Frequencies of the hereditary hemochromatosis allele in different populations: comparison of previous phenotypic methods and novel genotypic methods. Int J Hematol. 2003;77:48-54.

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16.  Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. 2005;352:1769-1778.

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17.  Lee GR, Foerster J, Lukens J, et al. Wintrobe's clinical hematology. 1999. Philadelphia, PA: Lippincott, Williams & Wilkins; 2004.

18.  Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399-408.

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19.  Gane EJ. The impact of research on haemochromatosis and liver transplantation in the Asia-Pacific region. Abstract of the 22nd conference of the Asian Pacific Association for the Study of the Liver. Hepatol Intl. 2012;21.

20.  Gurrin LC, Bertalli NA, Dalton GW, et al. HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. Hepatology. 2009;50:94-101.

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21.  Griffiths WJ. Review article: the genetic basis of haemochromatosis. Aliment Pharmacol Ther. 2007;26:331-342.

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22.  Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 2002;359:211-218.

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23.  Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008;358:221-230.

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24.  Guyader D, Jacquelinet C, Moirand R, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology. 1998;115:929-936.

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25.  Beaton M, Guyader D, Deugnier Y, et al. Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis. Hepatology. 2002;36:673-678.

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26.  Allen KJ, Bertalli NA, Osborne NJ, et al; HealthIron Study Investigators. HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis. Hepatology. 2010;52:925-933.

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27.  Rossi E, Bulsara MK, Olynyk JK, et al. Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population. Clin Chem. 2001;47:202-208.

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28.  Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet. 2003;361:669-673.

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29.  Falize L, Guillygomarc'h A, Perrin M, et al. Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. Hepatology. 2006;44:472-477.

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30.  Dymock IW, Hamilton EB, Laws JW, et al. Arthropathy of haemochromatosis: clinical and radiological analysis of 63 patients with iron overload. Ann Rheum Dis. 1970;29:469-476.

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31.  Valenti L, Fracanzani AL, Rossi V, et al. The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload. J Rheumatol. 2008;35:153-158.

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32.  Harty LC, Lai D, Connor S, et al. Prevalence and progress of joint symptoms in hereditary hemochromatosis and symptomatic response to venesection. J Clin Rheumatol. 2011;17:220-222.

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33.  Potekhina ES, Lavrov AV, Samokhodskaya LM, et al. Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients. Blood Cells Mol Dis. 2005;35:182-188.

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34.  Adams PC, Reboussin DM, Press RD, et al. Biological variability of transferrin saturation and unsaturated iron-binding capacity. Am J Med. 2007;120:999.e1–999.e7.

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35.  Gandon Y, Olivié D, Guyader D, et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet. 2004;363:357-362.

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36.  Adams PC, Speechley M, Barton JC, et al. Probability of C282Y homozygosity decreases as liver transaminase activities increase in participants with hyperferritinemia in the hemochromatosis and iron overload screening study. Hepatology. 2012;55:1722-1726.

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37.  Beaton M, Adams PC. Assessment of silent liver fibrosis in hemochromatosis C282Y homozygotes with normal transaminase levels. Clin Gastroenterol Hepatol. 2008;6:713-714.

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38.  Cherfane CE, Hollenbeck RD, Go J, et al. Hereditary hemochromatosis: missed diagnosis or misdiagnosis? Am J Med. 2013;126:1010-1015.

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39.  Eschewege E, Saddi R, Wacjman H, et al. Haemoglobin AIc in patients on venesection therapy for haemochromatosis. Diabetes Metab. 1982;8:137-140.

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40.  Yen AW, Fancher TL, Bowlus CL. Revisiting hereditary hemochromatosis: current concepts and progress. Am J Med. 2006;119:391-399.

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41.  McDermott JH, Walsh CH. Hypogonadism in hereditary hemochromatosis. J Clin Endocrinol Metabol. 2005;90:2451-2455.

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42.  Valenti L, Varenna M, Fracanzani AL, et al. Association between iron overload and osteoporosis in patients with hereditary hemochromatosis. Osteoporos Int. 2009;20:549-555.

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43.  Mehrany K, Drage LA, Brandhagen DJ, et al. Association of porphyria cutanea tarda with hereditary hemochromatosis. J Am Acad Dermatol. 2004;51:205-211.

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44.  Kaito M. Molecular mechanism of iron metabolism and overload in chronic hepatitis C. J Gastroenterol. 2007;42:96-99.

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45.  Corradini E, Pietrangelo A. Iron and steatohepatitis. J Gastroenterol Hepatol. 2012;27(suppl 2):42-46.

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46.  Moirand R, Mortaji AM, Loréal O, et al. A new syndrome of liver iron overload with normal transferrin saturation. Lancet. 1997;349:95-97.

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47.  Haute Autorité de Santé (France). Management of patients with HFE-related haemochromatosis (type 1 haemochromatosis). July 2005. http://www.has-sante.fr/ (last accessed 8 July 2016).

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48.  U.S. Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern Med. 2006;145:204-208.

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49.  American Academy of Family Physicians (AAFP). Summary of recommendations for clinical preventive services. June 2016. http://www.aafp.org/ (last accessed 11 July 2016).

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50.  Olynyk JK, Hagan SE, Cullen DJ, et al. Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc. 2004;79:309-313.

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51.  Andersen RV, Tybjaerg-Hansen A, Appleyard M, et al. Hemochromatosis mutations in the general population: iron overload progression rate. Blood. 2004;103:2914-2919.

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52.  Bryant J, Cooper K, Picot J, et al. A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations. Med Genet. 2008;45:513-518.

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53.  Bryant J, Cooper K, Picot J, et al. Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation. Health Technol Assess. 2009;13:iii, ix-xi, 1-126.

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54.  Gurrin LC, Osborne NJ, Constantine CC, et al. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology. 2008;135:1945-1952.

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55.  McDonnell SM, Grindon AJ, Preston BL, et al. A survey of phlebotomy among persons with hemochromatosis. Transfusion. 1999;39:651-656.

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56.  Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54:328-343.

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57.  Moretti D, van Doorn GM, Swinkels DW, et al. Relevance of dietary iron intake and bioavailability in the management of HFE hemochromatosis: a systematic review. Am J Clin Nutr. 2013;98:468-479.

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58.  Phatak P, Brissot P, Wurster M, et al. A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology. 2010;52:1671-1679.

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59.  Nicolas G, Viatte L, Lou DQ, et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet. 2003;34:97-101.

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60.  Hoffbrand AV, Cohen A, Hershko C. Role of deferiprone in chelation therapy for transfusional iron overload. Blood. 2003;102:17-24.

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61.  Sundic T, Hervig T, Hannisdal S, et al. Erythrocytapheresis compared with whole blood phlebotomy for the treatment of hereditary haemochromatosis. Blood Transfus. 2014;12(suppl 1):s84-s89.

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62.  Niederau C, Fischer R, Purschel A, et al. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996;110:1107-1119.

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63.  Van Aken MO, De Craen AJ, Gussekloo J, et al. No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: the Leiden 85-plus study. Eur J Clin Invest. 2002;32:750-754.

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64.  Coppin H, Bensaid M, Fruchon S, et al. Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: case control study of 492 French centenarians. BMJ. 2003;327:132-133.

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65.  Kowdley KV, Brandhagen DJ, Gish RG, et al. Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry. Gastroenterology. 2005;129:494-503.

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66.  Kowdley KV. Iron, hemochromatosis, and hepatocellular carcinoma. Gastroenterology. 2004;127(suppl 1):S79-S86.

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67.  Guggenbuhl P, Deugnier Y, Boisdet JF, et al. Bone mineral density in men with genetic hemochromatosis and HFE gene mutation. Osteoporosis Int. 2005;16:1809-1814.

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68.  Khan FA, Fisher MA, Khakoo RA. Association of hemochromatosis with infectious diseases: expanding spectrum. Int J Infect Dis. 2007;11:482-487.

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69.  El-Serag HB, Inadomi JM, Kowdley KV. Screening for hereditary hemochromatosis in siblings and children of affected patients: a cost-effectiveness analysis. Ann Intern Med. 2000;132:261-269.

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70.  Adams PC. Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis. Clin Genet. 1998;58:176-178.

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