Hereditary hemochromatosis

American Family Physician

Volumn 87, Issue 3, 2013, Pages 183-190

  Crownover, Brian K ^a   Covey, Carlton J ^a  

^a Nellis Air Force Base   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; HEMOGLOBIN; TRANSFERRIN;

ARTICLE; BINDING AFFINITY; CARDIOMYOPATHY; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEMOCHROMATOSIS; HEREDITARY HEMOCHROMATOSIS; HUMAN; HYPOGONADISM; IRON OVERLOAD; LIVER BIOPSY; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; PHLEBOTOMY; RANDOMIZED CONTROLLED TRIAL (TOPIC);

EID: 84874856796     PISSN: 0002838X     EISSN: 15320650     Source Type: Journal    
DOI: None     Document Type: Article

References (49)

1. Andrews NC. Disorders of iron metabolism [published correction appears in N Engl J Med. 2000;342(5):364]. N Engl J Med. 1999;341(26):1986-1995.
2. Hentze MW, Muckenthaler MU, Andrews NC. Balancing acts: molecular control of mammalian iron metabolism. Cell. 2004;117(3):285-297.
3. Harrison SA, Bacon BR. Relation of hemochromatosis with hepatocellular carcinoma: epidemiology, natural history, pathophysiology, screening, treatment, and prevention. Med Clin North Am. 2005;89(2):391-409.
4. Thompson HJ, Kennedy K, Witt M, Juzefyk J. Effect of dietary iron deficiency or excess on the induction of mammary carcinogenesis by 1-methyl-1-nitrosourea. Carcinogenesis. 1991;12(1):111-114.
5. Diwan BA, Kasprzak KS, Anderson LM. Promotion of dimethylbenz[a]anthracene-initiated mammary carcinogenesis by iron in female Sprague-Dawley rats. Carcinogenesis. 1997;18(9):1757-1762.
6. Kabat GC, Miller AB, Jain M, Rohan TE. Dietary iron and heme iron intake and risk of breast cancer: a prospective cohort study [published correction appears in Cancer Epidemiol Biomarkers Prev. 2007;16(11):2519]. Cancer Epidemiol Biomarkers Prev. 2007;16(6):1306-1308.
7. Mannello F, Tonti GA, Medda V, Simone P, Darbre PD. Analysis of aluminium content and iron homeostasis in nipple aspirate fluids from healthy women and breast cancer-affected patients. J Appl Toxicol. 2011;31(3):262-269.
8. Shizukuda Y, Bolan CD, Tripodi DJ, et al. Significance of left atrial contractile function in asymptomatic subjects with hereditary hemochromatosis. Am J Cardiol. 2006;98(7):954-959.
9. Shizukuda Y, Bolan CD, Nguyen TT, et al. Oxidative stress in asymptomatic subjects with hereditary hemochromatosis. Am J Hematol. 2007;82(3):249-250.
10. Murphy CJ, Oudit GY. Iron-overload cardiomyopathy: pathophysiology, diagnosis, and treatment. J Card Fail. 2010;16(11):888-900.
11. Buja LM, Roberts WC. Iron in the heart. Etiology and clinical significance. Am J Med. 1971;51(2):209-221.
12. Niederau C, Fischer R, Pürschel A, Stremmel W, Häussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996;110(4):1107-1119.
13. Fletcher LM, Dixon JL, Purdie DM, Powell LW, Crawford DH. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology. 2002;122(2):281-289.
14. Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54(1):328-343.
15. Nemeth E, Ganz T. The role of hepcidin in iron metabolism. Acta Haematol. 2009;122(2-3):78-86.
16. 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(4):399-408.
17. European Association for the Study of the Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol. 2010;53(1):3-22.
18. Phatak PD, Bonkovsky HL, Kowdley KV. Hereditary hemochromatosis: time for targeted screening. Ann Intern Med. 2008;149(4):270-272.
19. Adams PC, Reboussin DM, Barton JC, et al.; Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. 2005;352(17):1769-1778.
20. Iron Disorders Institute. http://www.irondisorders.org/. Accessed November 18, 2011.
21. Online Mendelian Inheritance in Man gene database. http://www.omim.org/entry/235200. Accessed April 5, 2012.
22. Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008;358(3):221-230.
23. McDonnell SM, Preston BL, Jewell SA, et al. A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment. Am J Med. 1999;106(6):619-624.
24. Valenti L, Varenna M, Fracanzani AL, Rossi V, Fargion S, Sinigaglia L. Association between iron overload and osteoporosis in patients with hereditary hemochromatosis. Osteoporos Int. 2009;20(4):549-555.
25. Guggenbuhl P, Deugnier Y, Boisdet JF, et al. Bone mineral density in men with genetic hemochromatosis and HFE gene mutation. Osteoporos Int. 2005;16(12):1809-1814.
26. Centers for Disease Control and Prevention. Hemochromatosis (iron storage disease). Training & education-diagnostic testing. Testing protocol. http://www.cdc.gov/ncbddd/hemochromatosis/training/diagnostic_testing/testing_protocol.html. Accessed November 18, 2011.
27. Adams PC, Reboussin DM, Press RD, et al. Biological variability of transferrin saturation and unsaturated iron-binding capacity. Am J Med. 2007;120(11):999. e1-7.
28. Iron Disorders Institute. Hemochromatosis diagnosis algorithm: clinical evaluation & management protocol. http://www.irondisorders.org/Websites/idi/files/Content/856494/HHC%20ALL2011.pdf. Accessed June 26, 2012.
29. Bassett ML, Halliday JW, Ferris RA, Powell LW. Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests. Gastroenterology. 1984;87(3):628-633.
30. Guyader D, Jacquelinet C, Moirand R, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology. 1998;115(4):929-936.
31. Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med. 1999;130(12):953-962.
32. Morrison ED, Brandhagen DJ, Phatak PD, et al. Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis [published correction appears in Ann Intern Med. 2003;139(3):235]. Ann Intern Med. 2003;138(8):627-633.
33. Beaton M, Guyader D, Deugnier Y, Moirand R, Chakrabarti S, Adams P. Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis. Hepatology. 2002;36(3):673-678.
34. Harrison SA, Bacon BR. Hereditary hemochromatosis: update for 2003. J Hepatol. 2003;38(suppl 1):S14-S23.
35. Iron Disorders Institute. Phlebotomy guidelines for patients with hereditary hemochromatosis. http://www.irondisorders.org/Websites/idi/files/Content/856494/Physician%20Chart%20phlebotomy%20detail2011.pdf. Accessed June 26, 2012.
36. Centers for Disease Control and Prevention. Hemochromatosis (iron storage disease). Training & education-treatment & management. Phlebotomy treatment. http://www.cdc.gov/ncbddd/hemochromatosis/training/treatment/phlebotomy_treatment.html. Accessed November 18, 2011.
37. Garrison C. Iron avidity: update on 2004 report. Iron Disorders Institute nanograms: December 2010. http://www.hemochromatosis.org/Websites/hemoch/Images/ST%20Iron%20Avidity%20DEC%202010.pdf. Accessed November 18, 2011.
38. U.S. Food and Drug Administration. Vaccines, blood & biologics. Guidance for industry: variances for blood collection from individuals with hereditary hemochromatosis. August 2001. http://www.fda.gov/BiologicsBloodVaccines/GuidanceComplianceRegulatoryInformation/Guidances/Blood/ucm076719.htm. Accessed November 18, 2011.
39. American Red Cross. Eligibility criteria by alphabetical listing. http://www.redcrossblood.org/donating-blood/eligibility-requirements/eligibility-criteria-alphabetical-listing. Accessed November 18, 2011.
40. Brittenham GM, Klein HG, Kushner JP, Ajioka RS. Preserving the national blood supply. Hematology Am Soc Hematol Educ Program. 2001:422-432.
41. Ashrafian H. Hepcidin: the missing link between hemochromatosis and infections. Infect Immun. 2003;71(12):6693-6700.
42. American Academy of Family Physicians. Hemochromatosis. http://www.aafp.org/online/en/home/clinical/exam/hemochromatosis.html. Accessed November 18, 2011.
43. Centers for Disease Control and Prevention. Hemochromatosis (iron storage disease). What should you know? http://www.cdc.gov/ncbddd/hemochromatosis/. Accessed November 18, 2011.
44. Whitlock EP, Garlitz BA, Harris EL, Beil TL, Smith PR. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2006;145(3):209-223.
45. Gan EK, Ayonrinde OT, Trinder D, Olynyk JK. Phenotypic expression of hereditary hemochromatosis: what have we learned from the population studies? Curr Gastroenterol Rep. 2010;12(1):7-12.
46. Rossi E, Olynyk JK, Jeffrey GP. Clinical penetrance of C282Y homozygous HFE hemochromatosis. Expert Rev Hematol. 2008;1(2):205-216.
47. Bruix J, Sherman M; American Association for the Study of Liver Diseases. Management of hepatocellular carcinoma: an update. Hepatology. 2011;53(3):1020-1022.
48. 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(2):472-477.
49. Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology. 1991;101(2):368-372.