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Training & Education - Bibliography

  1. Acton RT, Barton JC, Casebeer L, Talley L. Survey of physician knowledge about hemochromatosis. Genet Med 2002; 4(3):136–41.
    View abstract on PubMed
  2. Adamc PC, Brissot P, Powell LW. EASL International Conference on Haemochromatosis. J Hepatol 2000; 33(3):485–504.
    View abstract on PubMed
  3. Adams PC, Walker AP, Acton RT. A primer for predicting risk of disease in HFE linked hemochromatosis. Genet Test 2001; 5(4):311–316.
    View abstract on PubMed
  4. Asberg A, Hveem K, Thorstensen K, Ellekjter E, Kannelonning K, Fjosne U et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001; 36(10):1108–15.
    View abstract on PubMed
  5. Barton JC, Acton RT. Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. Genet Med. 2001; 3(4):294–300.
    View abstract on PubMed
  6. Barton JC and Edwards CQ. Hemochromatosis: Genetics, pathophysiology, diagnosis, and treatment. United Kingdom: Cambridge University Press, 2000.
  7. Barton JC, McDonnell SM, Adams PC, Brissot P, Powell LW, Edwards CQ et al. Management of hemochromatosis. Hemochromatosis Management Working Group. Ann Intern Med 1998; 129(11):932–939.
    View abstract on PubMed
  8. Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol Dis 1999; 25(3-4):147–155.
    View abstract on PubMed
  9. Beutler E, Felitti V, Koziol J, Ho N, Gelbart T. Penetrance of the 845G - A(C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002; 359:211–218.
    View abstract on PubMed
  10. Bodmer JG, Marsh SG, Albert ED, Bodmer WF, Charon D, Dupont B et al. Nomenclature for factors of the HLA system. Tissue Antigens 1997; 49(3)PartII:297–321.
    View abstract on PubMed
  11. Bomford A. Genetics of haemochromatosis. Lancet 2002; 360(9346): 1673–81.
    View abstract on PubMed
  12. Bradley LA, Haddow JE, Palomaki GE. Population screening for haemochromatosis: A unifying analysis of published intervention trials. J Med Screen 1996; 3(4):178–184.
    View abstract on PubMed
  13. Bradley LA, Haddow JE, Palomaki GE. Population screening for haemochromatosis: Expectations based on a study of relatives of symptomatic probands. J Med Screen 1996; 3(4):171–177.
    View abstract on PubMed
  14. Braunwald E, Fauci A, Kasper D, Hauser S, et al. Harrison's. 15th ed. 2001.
  15. Britton RS, Fleming RE, Parkkila S, Waheed A, Sly WS, Bacon BR. Pathogenesis of hereditary hemochromatosis: Genetics and beyond. Semin Gastrointest Dis 2002; 13(2):68–79.
    View abstract on PubMed
  16. Bulaj ZJ, Ajioka RS, Phillips JD, LaSalle BA, Jorde LB, Griffen LM et al. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 2000; 343(21):1529–35.
    View abstract on PubMed
  17. Burke W, Emery J. Genetics education for primary-care providers. Nat Rev Genet 2002; 3:561.
    View abstract on PubMed
  18. Burke W, Phatak P, Weinberg ED, Bonkovsky H. The Iron Disorders Institute Guide to Hemochromatosis. Nashville, TN: Cumberland House, 2001.
  19. Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC et al. Hereditary hemochromatosis: Gene discovery and its implications for population-based screening. JAMA 1998; 280(2):172–178.
    View abstract on PubMed
  20. Cadet E, Capron D, Perez A, Crepin S, Arlot S., Ducroix J et al. A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. J Intern Med 2003; 253:217–224.
    View abstract on PubMed
  21. Cartwright GE, Skolnick M, Amos DB, Edwards CQ, Kravitz K, Johnson A. Inheritance of hemochromatosis: Linkage to HLA. Trans Assoc Am Physicians 1978; 91:273–281.
    View abstract on PubMed
  22. Centers for Disease Control and Prevention. Recommendations to Prevent and Control Iron Deficiency in the United States. MMWR 1998; 47 (No. RR-3)
    http://www.cdc.gov/mmwr/preview/mmwrhtml/00051880.htm
  23. Cogswell ME, Burke W, McDonnell SM, Franks AL. Screening for hemochromatosis: A public health perspective. Am J Prev Med 1999; 16(2):134–140.
    View abstract on PubMed
  24. Dadone MM, Kushner JP, Edwards CQ, Bishop DT, Skolnick MH. Hereditary hemochromatosis: Analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol 1982; 78(2):196–207.
    View abstract on PubMed
  25. Dolbey CH. Hemochromatosis: A review. Clin J Oncol Nurs 2001; 5(6):257–260.
    View abstract on PubMed
  26. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000; 33:485–504.
    View abstract on PubMed
  27. Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A 1998; 95(4):1472–1477.
    View abstract on PubMed
  28. Feder JN, Tsuchihashi Z, Irrinki A, Lee VK, Mapa FA, Morikang E et al. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem 1997; 272(22):14025–14028.
    View abstract on PubMed
  29. Fleming DJ, Tucker KL, Jacques PF, Dallal GE, Wilson PW, Wood RJ. Dietary factors associated with the risk of high iron stores in the elderly Framingham Heart Study cohort. Am J Clin Nutr. 2002;76(6):1375–84.
    View Abstract on PubMed
  30. Fleming RE, Sly WS. Mechanisms of iron accumulation in hereditary hemochromatosis. Annu Rev Physiol 2002; 64:663–680.
    View abstract on PubMed
  31. Franks AL, Burke W. Will the real hemochromatosis please stand up? Ann Intern Med 1999;130(12):1018–9.
  32. Garry PJ, Hunt WC, Baumgartner RN. Effects of iron intake on iron stores in elderly men and women: longitudinal and cross-sectional results. J Am Coll Nutr. 2000;19(2):262-9.
    View Abstract on PubMed
  33. Haddow JE, Palomaki GE, McClain M, Craig W. Hereditary haemochromatosis and hepatocellular carcinoma in males: a strategy for estimating the potential for primary prevention. J Med Screen. 2003;10(1):11–3.
    View abstract on PubMed
  34. Hanson EH, Imperatore G, Burke W. HFE Gene and Hereditary Hemochromatosis: A HuGE Review. Am J Epidemiol 2001; 154(3):193–206.
    View abstract on PubMed
  35. Imperatore GM, Pinsky LEM, Motulsky AM, Reyes MP, Bradley LAP, Burke WM. Hereditary hemochromatosis: Perspectives of public health, medical genetics, and primary care. Genet Med 2003; 5(1):1–8.
    View abstract on PubMed
  36. Lang LH. Iron overload gene tied to colon cancer increased risk. Carolina 2003 Jan 15.
  37. Lebron JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 1998; 93(1):111–123.
    View abstract on PubMed
  38. Looker AC, Johnson CL. Prevalence of elevated serum transferrin saturation in adults in the United States. Ann Intern Med 1998; 129(11):940–945.
    View abstract on PubMed
  39. Mainous AG, III, Gill JM, Pearson WS. Should we screen for hemochromatosis? An examination of evidence of downstream effects on morbidity and mortality. Arch Intern Med 2002; 162(15):1769–1774.
    View abstract on PubMed
  40. McDonnell SM, Preston BL, Jewell SA, Barton JC, Edwards CQ, Adams PC et al. A survey of 2,851 patients with hemochromatosis: Symptoms and response to treatment. Am J Med 1999; 106(6):619–624.
    View abstract on PubMed
  41. McNamara L, MacPhail AP, Gordeuk VR, Hasstedt SJ, Rouault T. Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene? Br J Haematol 1998; 102(5):1176–1178.
    View abstract on PubMed
  42. Merck Manual of Diagnosis and Therapy. 17th ed. Whitehouse Station: Merck Research Laboratories, 1999.
  43. Morrison ED, Brandhagen DJ, Phatak PD, Barton JC, Krawitt EL, El-Serag HB, Gordon SC, Galan MV, Tung BY, Ioannou GN, Kowdley KV. Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis. Ann Intern Med 2003;138(8):627–33.
    View abstract on PubMed
  44. Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999; 93(8):2502–5.
    View abstract on PubMed
  45. Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med. 1985; 313(20):1256–62.
    View Abstract on PubMed
  46. Nowlan W. A Rational View of Insurance and Genetic Discrimination. Science 2002; 297:195.
    View abstract on PubMed
  47. Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999; 341(10):718–24.
    View abstract on PubMed
  48. Parkkila S, Waheed A, Britton RS, Feder JN, Tsuchihashi Z, Schatzman RC et al. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci U S A 1997; 94(6):2534–2539.
    View abstract on PubMed
  49. Philpott CC. Molecular aspects of iron absorption: Insights into the role of HFE in hemochromatosis. Hepatology 2002; 35(5):993–1001.
    View abstract on PubMed
  50. Physicians' Desk Reference. 29th ed. Oradell, NJ: Medical Economics Co., 2002–2003.
  51. Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999; 341(10):725–732.
    View abstract on PubMed
  52. Pointon JJ, Wallace D, Merryweather-Clarke AT, Robson KJ. Uncommon mutations and polymorphisms in the hemochromatosis gene. Genet Test 2000; 4(2):151–161.
    View abstract on PubMed
  53. Powell LW, George DK, McDonnell SM, Kowdley KV. Diagnosis of hemochromatosis. Ann Intern Med 1998; 129(11):925–931.
    View abstract on PubMed
  54. Reyes M, Dunet D, Blanck HM, Grossniklaus D. Hemochromatosis: information and resources for health care providers. Centers for Disease Control and Prevention Genomics and Population Health: United States, 2003. Atlanta, GA; 2004
  55. Rhodes DA, Trowsdale J. Alternate splice variants of the hemochromatosis gene HFE. Immunogenetics 1999; 49(4):357–359.
    View abstract on PubMed
  56. Shaywitz DA. Treating symptoms and missing disease. New York Times 2003; 7.
  57. Simon M, Bourel M, Fauchet R, Genetet B. HLA and "non-immunological" disease: Idiopathic haemochromatosis. Lancet 1976; 2(7992):973–974.
    View abstract on PubMed
  58. Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA 2001; 285(17):2216–2222.
    View abstract on PubMed
  59. Townsend A, Drakesmith H. Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. Lancet 2002; 359(9308):786–790.
    View abstract on PubMed
  60. Umek RM, Lin SW, Vielmetter J, Terbrueggen RH, Irvine B, Yu CJ, Kayyem JF, Yowanta H, Blackburn GF, Farkas DH, Chen YP. Electronic detection of nucleic acids: a versatile platform for molecular diagnostics. J Mol Diagn 2001; 3(2):74–84.
    View abstract on PubMed
  61. Waheed A, Parkkila S, Saarnio J, Fleming RE, Zhou XY, Tomatsu S et al. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc Natl Acad Sci U S A 1999; 96(4):1579–1584.
    View abstract on PubMed
  62. Waheed A, Parkkila S, Zhou XY, Tomatsu S, Tsuchihashi Z, Feder JN, Schatzman RC, Britton RS, Bacon BR, Sly WS. Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microlobulin, intracellular porcessing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci U S A. 1997; 94(23):12384–9.
    View abstract on PubMed
  63. Wallace DF, Walker AP, Pietrangelo A, Clare M, Bomford AB, Dixon JL, Powell, LW, Subramaniam VN, Dooley JS. Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y. J Hepatol 2002; 36(4):474–9.
    View abstract on PubMed
  64. Whittington CA, Kowdley KV. Review article: haemochromatosis. Alimentary Pharmacology & Therapeutics 2002; 16(12):1963–1975.
    View abstract on PubMed
  65. Willis G, Wimperis JZ, Lonsdale R, Fellows IW, Watson MA, Skipper LM, Jennings BA. Incidence of liver disease in people with HFE mutations. Gut. 2000;46(3):401–4.
    View Abstract on PubMed
  66. Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. Practice guideline development task force of the College of American Pathologists: Hereditary hemochromatosis. Clin Chim Acta 1996; 245(2):139–200.
    View abstract on PubMed
  67. Wright SM, Finical J. Beyond leeches. Therapeutic phlebotomy today. Am J Nurs 2000; 100(7):55–9, 61, 63.
    View abstract on PubMed
  68. Zaahl MG, Merryweather-Clarke AT, Cotze MJ, Vandermerwe S, Warnich L, Robson KJ, Analysis Of Genes Implicated In Iron Regulation In Individuals Presenting With Primary Iron Overload. Hum Genet 2004 Oct; 115(5):409–7.
  69. Zhou XY, Tomatsu S, Fleming RE, Parkkila S, Waheed A, Jiang J et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci U S A 1998; 95(5):2492–2497.
    View abstract on PubMed

 

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