Study of C282Y, H63D and S65C mutations in the HFE gene in Brazilian patients with iron overload;Estudo das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro

Revista Brasileira de Hematologia e Hemoterapia

Volumn 29, Issue 4, 2007, Pages 351-360

  Cançado, Rodolfo Delfini ^a,b   Guglielmi, Aline C O ^a   Vergueiro, Carmen S V ^a   Rolim, Ernani G ^a   Figueiredo, Maria Stella ^a   Chiattone, Carlos S ^a  

^a FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

^b Hemocentro da Santa Casa de São Paulo ^*  (Brazil)

Author keywords

Ferritin; Hemochromatosis genetic; Heterozygous; Homozygous; Iron overload; Mutation

Indexed keywords

EID: 41549119562     PISSN: 15168484     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1516-84842007000400007     Document Type: Article

References (62)

1. Andrews NC, Levy JE. Iron is hot: an update on the pathophysiology of hemochromatosis. [Review] Blood. 1998; 92: 1845-51.
2. Andrews NC. Disorders of iron metabolism. [Review] N Engl J Med. 1999;341:1986-95.
3. Brittenham GM, Weiss G, Brissot P, Lainé F et al. Clinical consequences of new insights in the pathophysiology of disorders of iron and heme metabolism. Hematology (Am Soc Hematol Educ Program). 2000;39-50.
4. Ajioka RS, Kushner JP. Hereditary hemochromatosis. [Review] Semin Hematol. 2002;39:235-41.
5. McCarthy GM, Crowe J, McCarthy CJ et al. Hereditary hemochromatosis: a common, often unrecognized, genetic disease. [Review] Cleve Clin J Med. 2002;69:224-6, 229-30, 232-33.
6. Piperno A, Sampietro M, Pietrangelo A et al. Heterogeneity of Hemochromatosis in Italy. Gastroenterology. 1998;114:996-1002.
7. Pietrangelo A. Hereditary hemochromatosis - a new look at an old disease. [Review]. N Engl J Med. 2004;350:2383-97.
8. Camaschella C, Piperno A. Hereditary hemochromatosis: recent advances in molecular genetics and clincal management. [Review] Haematology. 1997;82:77-84.
9. Burke W, Thomson E, Khoury MJ et al. Hereditary hemochromatosis: gene discovery and its implication for population-based screening. JAMA. 1998;280:172-8.
10. Burt MJ, George PM, Upton JD et al. The significance of haemochromatosis gene mutations in the general population: implications for screening. Gut. 1998;43:830-6.
11. McCullen MA, Crawford DHG, Hickman PE. [Review] Screening for hemochromatosis. Clin Chim Acta. 2002;315:169-86.
12. Beutler E, Felitti V, Gelbart T, Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med. 2000;133:329-37.
13. 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;36:1108-15.
14. Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood. 2003;101:3347-50.
15. Bacon BR, Powell LW, Adams PC et al. Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology. 1999;116:193-207.
16. Hanson EH, Imperatore G, Burke W. HFE Gene and hereditary hemochromatosis: A HuGE review. Human Genome Epidemiology. [Review] Am J Epidemiol. 2001;154:193-206.
17. Agostinho MF, Arruda VR, Basseres DS et al. Mutation analysis of the HFE gene in Brazilians populations. Blood Cells Mol Dis. 1999;15:324-7.
18. Calado RT, Franco RF, Pazin-Filho A et al. HFE gene mutations in coronary atherothrombotic disease. Braz J Med Biol Res. 2000;33:301-6.
19. Pereira AC, Cuoco MAR, Mota GF et al. Hemochromatosis gene variants in patients with cardiomyopathy. Am J Cardiol. 2001;88:388-91.
20. Pereira AC, Mota GF, Krieger JE. Hemochromatosis gene variants in three different ethnic populations: effects of admixture for screening programs. Hum Biol. 2001;73:145-51.
21. Bueno S. Estudo das mutações C282Y, H63D e S65C do gene HFE em uma população brasileira miscigenada. Tese (Mestrado). São Paulo; Universidade Federal de São Paulo: 2003.
22. Krieger H, Morton NE, Mi MP et al. Racial admixture in northeastern Brazil. Ann Hum Genet. 1965;29:113-25.
23. Scotet V, Merour MC, Mercier AY et al. Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation. Am J Epidemiol. 2003;158:129-34.
24. Naoum PC, Naoum FA. Técnicas laboratoriais para identificação da hemoglobina S e seus genótipos. In: Naoum PC, Naoum FA. Doença das Células Falciformes. São Paulo: Sarvier; 2004. p. 205-17.
25. Dacie JV, Lewis SM, Luzatto L. Investigation of the hereditary haemolytic anaemias: membrane and enzyme abnormalities. In: Dacie JV, Lewis SM (eds) Practical haematology, Edinburgh: Churchill Livingstone, 1991. p. 195-225
26. Naoum PC, Naoum FA. Diagnóstico laboratorial das doenças das células falciformes. In: Naoum PC, Naoum FA. Doença das Células Falciformes. São Paulo: Sarvier; 2004. p. 111-31.
27. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
28. Lahiri DK Numberg JL Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 1991;19:5.444.
29. Salazar LA, Hirata MH, Cavalli AS et al. Optimized procedure for DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testing. Clin Chem. 1998;44:1.748-50.
30. 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.
31. Simonsen K, Dissing J, Rudbeck L et al. Rapid and simple determination Hereditary Haemochromatosis mutation by multiplex PCR-SSCP: detection of a new polymorphic mutation. Ann Hum Genet. 1999;63:193-7.
32. Scheuer PJ, Willians R, Muir AR. Hepatic pathology in relatives of patients with haemochromatosis. J Pathol Bacterial. 1962;84:53-64.
33. Arruda VR, Agostinho MF, Cançado RD et al. β- Thalassemia trait might increase the severity of hemochromatosis in subjects with the C282Y mutation in the HFE gene. [Letter] Am J Hematol. 2000;63:230.
34. Carella M, D'Ambrosio L, Totaro A et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis. Am J Hum Genet. 1997;60:828-32.
35. Bacon Br. Haemochromatosis: diagnosis and management. Gastroenterol. 2001;120:718-25.
36. Burke W, Imperatore G, McDonnell SM et al. Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genet Med. 2000;2:271-7.
37. Powell LW. Hereditary hemochromatosis and iron overload diseases. J Gastroenterol Hepatol. 2002;17(suppl):191-95.
38. Barton JC, McDonnell SM, Adams PC et al. Management of hemochromatosis. Hemochromatosis Management Working Group. [Review] Ann Intern Med. 1998; 129:932-9.
39. Halliday JW, Ramm GA, Powell LW et al. Cellular iron processing and storage: the role of ferritin. In: Brock JH, Halliday JW, Pippard MJ, Powell LW. Iron metabolism in health and disease. 7th ed. London: W. B. Saunders; 1994. p.98-121.
40. Beutler E, Hoffbrand V, Cook JD. Iron deficiency and overload. [Review] Hematology (Am Soc Hematol Educ Program). 2003;40-61.
41. Nielsen P, Carpinteiro S, Fischer R et al. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Br J Haematol. 1998;103:842-5.
42. Phatak PD, Sham RL, Raubertas RF et al. Prevalence of hereditary hemochromatosis in 16031 primary care patients. Ann Intern Med. 1998;129:954-61.
43. Adams PC. Population screening for haemochromatosis. Gut. 2000;46:301-3.
44. Brandhagen DJ, Fairbanks VF, Baldus WP et al. Prevalence and clinical significance of HFE gene mutations in patients with iron overload. Am J Gastroenterol. 2000;95:2910-4.
45. Altes A, Remacha AF, Sureda A et al. Patients with biochemical iron overload: causes and characteristics of a cohort of 150 cases. Ann Hematol. 2003;82:127-30.
46. Bittencourt PL, Palácios SA, Couto CA et al. Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. Braz J Med Biol Res. 2002;35:329-35.
47. Bradley LA, Haddow JE, Palomaki GE. Population screening for haemochromatosis: expectations based on a study of relatives of symptomatic probands. J Med Screen 1996;3:171-7.
48. Bacon BR, Olynyk JK, Brunt EM et al. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med. 1999;130:953-62.
49. Cançado RD, Vasconcelos MCC, Langhi Jr D et al. Características clínicas e laboratoriais de dez doentes com hemocromatose hereditária. [Resumo 189] Rev Bras Hematol Hemoter; 2003 (Supl 2): p.189, apresentada no 26° Congresso Brasileiro de Hematologia e Hemoterapia, 2003; São Paulo.
50. 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;106:619-24.
51. Garry PJ, Montoya GD, Baumgarthner RN et al. Impact of HLA-H mutations on iron stores in healthy elderly men and women. Blood Cells Mol Dis. 1997;23:277-87.
52. Sham RL, Raubertas RF, Braggins C et al. Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles. Blood. 2000;96:3707-11.
53. Beutler R, Felitti V, Koziol JA et al. Penetrance of 845-A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-8.
54. Mura C, Raguenes O, Ferec C. HFE mutation analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood. 1999;93:2502-5.
55. Witte DL, Crosby WH, Edwards CQ et al. Practice Guideline Development Task Force of the College of American Pathologists: Hereditary hemochromatosis. [Review] Clin Chim Acta. 1996;245:139-200.
56. Edwards CQ. Hemochromatosis. In: Lee GR, Ferster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM. Wintrobe's clinical hematology. 10th ed. Baltimore: Lippincott Williams & Wilkins; 1999. v.1, p.1056-70.
57. Smith BC, Grove J, Guzail MA, Day CP et al. Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatits C. Hepatology. 1998;27:1695-9.
58. Piperno A. Classification and diagnosis of iron overload. [Review] Haematologica. 1998; 83:447-55.
59. Fletcher LM, Dixon JL, Purdie DM, et al. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology. 2002;122:281-9.
60. Britton RS, Bacon ER. [Review] Hereditary hemochromatosis and alcohol: a fibrogenic cocktail. Gastroenterology. 2002; 122: 563-5.
61. Erhardt A, Hauck K, Haussinger D. Iron as comorbid factor in chronic hepatitis C. [Review] Med Klin (Munick). 2003; 98: 685-91.
62. Pietrangelo A. Haemochromatosis. [Review] Gut 2003, 52 (suppl 2):23-30.