Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload

Haematologica

Volumn 88, Issue 4, 2003, Pages 396-401

  De Gobbi, Marco ^a   Daraio, Filomena ^a   Oberkanins, Christian ^b   Moritz, Anne ^b   Kury, Fritz ^b   Fiorelli, Gemino ^c   Camaschella, Clara ^a,d  

^a UNIVERSITY OF TURIN   (Italy)

^b VIENNALAB DIAGNOSTICS GMBH   (Austria)

^c UNIVERSITY OF MILAN   (Italy)

^d UNIVERSITY OF TURIN   (Italy)

Author keywords

Hemochromatosis; HFE; Screening; TFR2

Indexed keywords

FERRITIN; TRANSFERRIN; TRANSFERRIN RECEPTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD DONOR; FEMALE; FERRITIN BLOOD LEVEL; GENE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE; HFE GENE; HOMOZYGOTE; HUMAN; IRON OVERLOAD; ITALY; MALE; TFR2 GENE; WILD TYPE;

BLOOD DONORS; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY, MOLECULAR; FEMALE; GENE FREQUENCY; GENOTYPE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; ITALY; MALE; MEMBRANE PROTEINS; RECEPTORS, TRANSFERRIN;

EID: 0038373865     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Camaschella C, De Gobbi M, Roetto A. Hereditary hemochromatosis: progress and perspective. Rev Clin Exp Hematol 2000;4:302-21.
2. 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 haemochromatosis. Nat Genet 1996;13:399-408.
3. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative hemochromatosis mutations. J Med Genet 1997;34:275-8.
4. Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino MA, Piperno A, et al. Mutation analysis of HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997;60:828-32.
5. Piperno A, Sampietro M, Pietrangelo A, Arosio C, Ludica L, Montosi G, et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998;114:996-1002.
6. Borot N, Roth M, Malfroy L, Demangel C, Vinel JP, Pascal JP, et al. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 1997; 45:320-4.
7. Papanikolau G, Politou M, Terpos E, Fourlemadis S, Sakellaropoulos N, Loukopoulos D. Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity. Blood Cells Mol Dis 2000;26:163-8.
8. Cardoso CS, Oliveira P, Porto G, Oberkanins C, Mascarenhas M, Rodrigues P, et al. Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal. Eur J Hum Genet 2001;9:843-8.
9. Wallace DF, Dooley JSE, Walker AP. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology 1999;116: 1409-12.
10. Piperno A, Arosio C, Fossati L, Vigano M, Trombini P, Vergani A, et al. Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis. Gastroenterology 2000;119:441-5.
11. Oberkanins C, Moritz A, de Villiers JN, Kotze MJ, Kury F. A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations Gen Test 2000;4:121-4.
12. Pointon JJ, Wallace D, Merryweather-Clarke AT, Robson KJ. Uncommon mutations and polymorphisms in the hemochromatosis gene. Genet Test 2000;4:151-61.
13. Camaschella C, Roetto A, De Gobbi M. Genetic haemochromatosis: genes and mutations associated with iron loading. Best Pract Res Clin Haematol 2002;15:261-76.
14. Camaschella C, Roetto A, De Gobbi M. Juvenile hemochromatosis. Semin Hematol 2002;39:242-8
15. Roetto A, Totano A, Cazzola M, Cicalano M, Bosio S, D'Ascola G, et al. The juvenile hemochromatosis locus maps to chromosome lq. Am J Hum Genet 1999;64:1388-93.
16. Roetto A, Papanikoalou G, Politou M, Alberti F, Girelli D, Christakis J, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003;33:21-2.
17. Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, et al. The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22. Nat Genet 2000;25:14-5.
18. Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001;97:2555-60.
19. Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-4.
20. Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-23.
21. Roetto A, Merryweather-Clarke AT, Daraio F, Livesey K, Pointon JJ, Barbabietola G, et al. A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4? Blood 2002;100:733-4.
22. Velati C, Sampietro M, Tavazzi D, Delbini P, Fargion S, Marlianici E, et al. Genetic screening for hemochromatosis in Italian prospective blood donors with iron overload. In Bioiron 2001 World Congress on Iron Metabolism. August 18-23, 2001, Cairns, Australia.
23. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-8.
24. Adams PC. Population screening for hemochromatosisare we finding people with a disease or a biochemical curiosity? Semin Gastrointest Dis 2002;13:89-94.
25. Mc Grath JS, Deugnier Y, Moirand R, Jouanolle AM, Chakrabarti S, Adams PC. A normogram to predict C282Y hemochromatosis. J Lab Clin Med 2002;140:6-8.
26. Restagno G, Gomez AM, Sbaiz L, De Gobbi M, Roetto A, Bertino E, et al. A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology. Genet Test 2000; 4:177-81.
27. Cassanelli S, Pignatti E, Montosi G, Garuti C, Mariano M, Campioli D, et al. Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy. J Hepatol 2001;34:523-8.
28. Barosi G, Satvaneschi L, Grasso M, Martinetti M, Marchetti M, Bodini U, et al. High prevalence of a screening-detected, HFE-unrelated, mild idiopathic iron overload in Northern Italy. Haematologica 2002;87:472-8.
29. Girouard J, Giguere Y, Delage R, Rousseau F. Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients. Hum Mol Genet 2002;11:185-9.
30. Trombini P, Mauri V, Salvioni A, Corengia C, Arosio C, Piperno A. S65C frequency in Italian patients with hemochromatosis, porphyria cutanea tarda and chronic viral hepatitis with iron overload. Haematologica 2001;86:316-7.
31. Menardi G, Perotti L, Prucca M, Martini S, Prandi G, Peano G. A Very Rare Association of three mutations of the HFE gene for hemochromatosis. Genet Test 2002;6:331-4.
32. De Gobbi M, Barilaro MR, Garozzo G, Sbaiz L, Alberti F, Camaschella C. TFR2 Y250X mutation in Italy. Br J Haematol 2001;114:243-4.
33. Mariani R, Salvioni A, Mauri V, Oberkanis C, Moritz A, Baldini V, et al. In Bioiron 2001 World Congress on Iron Metabolism. August 18-23, 2001, Cairns, Australia.
34. Aguilar-Martinez P, Esculie-Coste C, Bismuth M, Giansily-Blaizot M, Larrey D, Schved JF. Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis. Blood Cells Mol Dis 2001;27:290-3.
35. Barton EH, West PA, Rivers CA, Barton JC, Acton RG. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. Blood Cells Mol Dis 2001;27:279-84.
36. Lee PL, Halloran C, West C, Beutler E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol Dis 2001;27:285-9.