Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis

British Journal of Haematology

Volumn 127, Issue 2, 2004, Pages 224-229

  Lee, Pauline L ^a   Barton, James C ^b   Brandhagen, David ^c   Beutler, Ernest ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b SOUTHERN IRON DISORDERS CENTER   (United States)

^c MAYO CLINIC   (United States)

Author keywords

Denaturing high performance liquid chromatography; Haemochromatosis; Hemojuvelin; Mutations; Polymorphisms

Indexed keywords

CYSTEINE; DNA; GLYCINE; HEMOJUVELIN; TRYPTOPHAN; VALINE;

AFRICAN AMERICAN; ARTICLE; ASIAN; CHROMOSOME 1Q; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EUROPEAN AMERICAN; GENE; GENE INSERTION; GENE MUTATION; GENETIC POLYMORPHISM; HEMOCHROMATOSIS; HEMOSIDEROSIS; HETEROZYGOSITY; HFE GENE; HUMAN; IRON OVERLOAD; MAJOR CLINICAL STUDY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AFRICAN AMERICANS; AGE OF ONSET; ASIAN AMERICANS; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; PENETRANCE; POLYMORPHISM, GENETIC;

EID: 5644235082     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.05165.x     Document Type: Article

References (21)

1. Ajioka, R.S. & Kushner, J.P. (2003) Clinical consequences of iron overload in hemochromatosis homozygotes. Blood, 101, 3351-3353.
2. Barton, J.C., Acton, R.T., Rivers, C.A., Bertoli, L.F., Gelbart, T., West, C. & Beutler, E. (2003) Genetic and phenotypic heterogeneity of primary iron overload in African Americans. Blood Cells, Molecules, and Diseases, 31, 310-319.
3. Beutler, E. (2003) The HFE Cys282Tyr mutation as a necessary but not sufficient cause of hereditary hemochromatosis. Blood, 101, 3347-3350.
4. Beutler, L. & Beutler, E. (2004) Hematologically important mutations: hemochromatosis. Blood Cells, Molecules, and Diseases, 33, 40-44.
5. Beutler, E. & Gelbart, T. (2002) Tumor necrosis factor a promoter polymorphisms and liver abnormalities of homozygotes for the c.845 G6A (C282Y) hereditary hemochromatosis mutation. Blood, 100, 2268-2269.
6. Beutler, E., Gelbart, T. & Lee, P. (2002) Haptoglobin polymorphism and iron homeostasis. Clinical Chemistry, 48, 2232-2235.
7. Beutler, E., Barton, J.C., Felitti, V.J., Gelbart, T., West, C., Lee, P.L., Waalen, J. & Vulpe, C. (2003) Ferroportin (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells, Molecules, and Diseases, 31, 305-309.
8. Carter, K., Bowen, D.J., McCune, C.A. & Worwood, M. (2003) Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis. British Journal of Haematology, 122, 326-332.
9. De Gobbi, M., Roetto, A., Piperno, A., Mariani, R., Alberti, F., Papanikolaou, G., Politou, M., Lockitch, G., Girelli, D., Fargion, S., Cox, T.M., Gasparini, P., Cazzola, M. & Camaschella, C. (2002) Natural history of juvenile haemochromatosis. British Journal of Haematology, 117, 973-979.
10. Fargion, S., Valenti, L., Dongiovanni, P., Scaccabarozzi, A., Fracanzani, A.L., Taioli, E., Mattioli, M., Sampietro, M. & Fiorelli, G. (2001) Tumor necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis. Blood, 97, 3707-3712.
11. Feder, J.N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D.A., Basava, A., Dormishian, F., Domingo, Jr, R., Ellis, M.C., Fullan, A., Hinton, L.M., Jones, N.L., Kimmel, B.E., Kronmal, G.S., Lauer, P., Lee, V.K., Loeb, D.B., Mapa, F.A., McClelland, E., Meyer, N.C., Mintier, G.A., Moeller, N., Moore, T., Morikang, E., Prass, C.E., Quintana, L., Starnes, S.M., Schatzman, R.C., Brunke, K.J., Drayna, D.T., Risch, N.J., Bacon, B.R. & Wolff, R.K. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genetics, 13, 399-408.
12. Jacolot, S., Le Gac, G., Scotet, V., Quere, I., Mura, C. & Ferec, C. (2004) HAMP as a modifier gene that increase the phenotypic expression of the HFE p. C282Y homozygous genotype. Blood, 103, 2835-2840.
13. Lanzara, C., Roetto, A., Daraio, F., Rivard, S., Ficarella, R., Simard, H., Cox, T., Cazzola, M., Piperno, A., Gimenez-Roqueplo, A.P., Grammatico, P., Volinia, S., Gasparini, P. & Camaschella, C. (2004) The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood, 103, 4317-4321.
14. Lee, P.L., Gelbart, T., West, C., Halloran, C. & Beutler, E. (2002) Seeking candidate mutations that affect iron homeostasis. Blood Cells, Molecules, and Diseases, 29, 471-487.
15. Lee, P.L., Beutler, E., Rao, S.V. & Barton, J.C. (2004) Genetic abnormalities and juvenile hemochromatosis mutations of the HJV gene encoding hemojuvelin. Blood, 103, 4669-4671.
16. Livesey, K.J., Wimhurst, V.L., Carter, K., Worwood, M., Cadet, E., Rochette, J., Roberts, A.G., Pointon, J.J., Merryweather-Clarke, A.T., Bassett, M.L., Jouanolle, A.M., Mosser, A., David, V., Poulton, J. & Robson, K.J. (2004) The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. Journal of Medical Genetics, 41, 6-10.
17. Merryweather-Clarke, A.T., Cadet, E., Bomford, A., Capron, D., Viprakasit, V., Miller, A., McHugh, P.J., Chapman, R.W., Pointon, J.J., Wimhurst, V.L.C., Livesey, K.J., Tanphaichitr, V., Rochette, J. & Robson, K.J.H. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Human Molecular Genetics, 12, 2241-2247.
18. Papanikolaou, G., Samuels, M.E., Ludwig, E.H., MacDonald, M.L., Franchini, P.L., Dube, M.P., Andres, L., MacFarlane, J., Sakellaropoulos, N., Politou, M., Nemeth, E., Thompson, J., Risler, J.K., Zaborowska, C., Babakaiff, R., Radomski, C.C., Pape, T.D., Davidas, O., Christakis, J., Brissot, P., Lockitch, G., Ganz, T., Hayden, M.R. & Goldberg, Y.P. (2004) Mutations in HFE2 cause iron overload in chromosome lq-linked juvenile hemochromatosis. Nature Genetics, 36, 77-82.
19. Pointon, J.J., Viprakasit, V., Miles, K.L., Livesey, K.J., Steiner, M., O'Riordan, S., Hien, T.T., Merryweather-Clarke, A.T. & Robson, K.J. (2003) Hemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload. Blood Cells, Molecules, and Diseases, 30, 302-306.
20. Steiner, M., Ocran, K., Genschel, J., Meier, P., Gerl, H., Ventz, M., Schneider, M.L., Buttner, C., Wadowska, K., Kerner, W., Schuff-Werner, P., Lochs, H. & Schmidt, H. (2002) A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin. Gastroenterology, 122, 789-795.
21. Van Vlierberghe, H., Langlois, M., Delanghe, J., Horsmans, Y., Michielsen, P., Henrion, J., Cartuyvels, R., Billiet, J., De Vos, M. & Leroux-Roels, G. (2001) Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients. Journal of Hepatology, 35, 707-711.