Hereditary hemochromatosis: Phenotypic study in a Spanish population;Hemocromatosis hereditaria: Estudio fenotípico de una población Española

Medicina Clinica

Volumn 125, Issue 19, 2005, Pages 721-726

  Vázquez Romero, Manuel ^a,b   Boixeda De Miquel, Daniel ^a   Vallcorba Gómez Del Valle, Isabel ^a   Foruny Olcina, José Ramón ^a   De Argila, Carlos Martín ^a   San Román Cos Gayón, Carlos ^a  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b NONE   (Spain)

Author keywords

Hemochromatosis; Iron overload; Phenotype; Transferrin

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; FERRITIN; FLUROTHYL; IRON; TRANSFERRIN;

ADULT; ALCOHOL CONSUMPTION; ARTICLE; BLOOD DONOR; CONFIDENCE INTERVAL; DISORDERS OF CARBOHYDRATE METABOLISM; FEMALE; GENETIC DISORDER; GENOTYPE; GLUCOSE METABOLISM; HEMOCHROMATOSIS; HEMOSIDEROSIS; HEPATITIS C; HOMOZYGOTE; HUMAN; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PHENOTYPIC VARIATION; SYMPTOM;

EID: 29444445186     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0025-7753(05)72169-2     Document Type: Article

References (26)

1. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I- like gene is mutated in patients with hereditary hemochromatosis. Nat Genet. 1996;13:399-408.
2. Niederau C, Strohmeyer G, Stremmel W. Epidemiology, clinical spectrum and prognosis of hemochromatosis. Adv Exp Med Biol. 1994;356: 293-302.
3. Martínez-Vázquez C, Martínez J, Gil M, Sopeña B, Torres J, Cordeiro E, et al. Prevalencia de la hemocromatosis en trabajadores sanos. Importancia de añadir en la analítica de perfil bioquímico una saturación de transferrina. An Med Interna. 2000;17:628-31.
4. Schener PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with haemochromatosis. J Pathol Bacteriol. 1962;84:53-64.
5. Beutler E, Felliti V, Ho NJ, Gelbart T. Relationship of body iron stores to levels of serum ferritin, serum iron, unsaturated iron binding capacity and transferrin saturation in patients with iron storage disease. Acta Haematol. 2002;107:145-9.
6. Guix P, Picornell A, Parera M, Galmes A, Obrador A, Ramon MM, et al. Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain). Clin Genet. 2002;61:43-8.
7. Sánchez M, Bruguera M, Bosch J, Rodés J, Ballesta F, Oliva R. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J Hepatol. 1998;29:725-8.
8. Sánchez M, Bruguera M, Quintero E, Barrio Y, Mazzara R, Rodés J, et al. Hereditary hemochromatosis in Spain. Genet Test. 2000;4:171-6.
9. De Diego C, Murga MJ, Martínez-Castro P. Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain. Genet Test. 2004;8:263-7.
10. Altés A, Ruiz A, Barceló MJ, Remacha AF, Puig T, Maya AJ, et al. Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1146 newborns from a region of Northern Spain. Genet Test. 2004;8:407-10.
11. Sánchez M, Villa M, Ingelmo M, Sanz C, Bruguera M, Ascaso C, et al. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. J Hepatol. 2003;38:745-50.
12. Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis. Hepatology. 1997;25:162-6.
13. Hramiak IM, Finegood DT, Adams PC. Factors affecting glucose tolerance in hereditary hemochromatosis. Clin Invest Med. 1997;20:110-8.
14. Kwan T, Leber B, Ahuja S, Carter R, Gerstein HC. Patients with type 2 diabetes have a high frequency of the C282Y mutation of the hemochromatosis gene. Clin Invest Med. 1998;21: 251-7.
15. Moczulsky DK, Grzeszczak W, Gawlik B. Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. Diabetes Care. 2001;24:1187-91.
16. Peterlin B, Globocnick Petrovic M, Makuc J, Hawlina M, Petrovic D. A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. J Hum Genet. 2003;48:646-9.
17. Niederau C, Niederau CM, Lange S, Littauer A, Abdel-Jalil N, Maurer M, et al. Screening for hemochromatosis and iron deficiency in employees and primary care patients in western Germany. Ann Intern Med. 1998;128:337-45.
18. Altés A, Ruiz MA, Castell C, Roure E, Tresserras R. Déficit y sobrecarga de hierro en la población adulta de Cataluña. Med Clin (Barc). 2004;123: 131-3.
19. Moirand R, Adams PC, Bicheler V, Brissot P, Deugnier Y. Clinical features of genetic hemochromatosis in women compared with men. Ann Intern Med. 1997;127:105-10.
20. Adams PC, Kertesz AE, McLaren CE, Barr R, Bamford A, Chakrabarti S. Population screening for hemochromatosis: a comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5211 voluntary blood donors. Hepatology. 2000;31:1160-4.
21. McCullen MA, Crawford DHG, Dimeski G, Tate J, Hickman PE. Why there is discordance thresholds for transferrin saturation when screening for hereditary hemochromatosis. Hepatology. 2000;32:1410-1.
22. McGrath JS, Deugnier Y, Moirand R, Jouanolle A-M, Chakrabarti S, Adams PC. A nomogram to predict C282Y hemochromatosis. J Lab Clin Med. 2002;140:6-8.
23. McLaren ChE, McLachlan GJ, Halliday JW, Webb SI, Leggett BA, Jazwinska EC, et al. Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis. Gastroenterology. 1998;114: 543-9.
24. Scotet V, Mérour MC, Mercier AY, Chanu B, Le Faou T, Raguénes O, 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.
25. Fletcher LM, Dixon JL, Purdie DM, Powell LW, Crawford DHG. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary Hemochromatosis. Gastroenterology. 2002;122:281-9.
26. Diwakaran HH, Befeler AS, Britton RS, Brunt EM, Bacon BR. Accelerated hepatic fibrosis in patients with combined hereditary hemochromatosis and chronic hepatitis C infection. J Hepatol. 2002;36:687-91.