Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany

British Journal of Haematology

Volumn 103, Issue 3, 1998, Pages 842-845

  Nielsen, P ^a   Carpinteiro, S ^a   Fischer, R ^a   Cabeda, J M ^b   Porto, G ^b   Gabbe, E E ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b HOSPITAL DE SANTO ANTÓNIO   (Portugal)

Author keywords

C282Y; German patients; H63D; Haemochromatosis; Liver iron

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GERMANY; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PREVALENCE; PRIORITY JOURNAL;

ADULT; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; GERMANY; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IRON; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PREVALENCE;

EID: 0031729616     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.01037.x     Document Type: Article

References (11)

1. Borot, N., Roth, M., Malfroy, M., Demangel, C., Vinel, J.P., Pascal, J.P. & Coppin, H. (1997) Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics, 45, 320-324.
2. Feder, J.N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D.A., Basava, A., Dormishian, F., Domingo, R., Jr, Ellis, M.C., Fullan, A., Hinton, L.M., Jones, N.L., Kimmel, B.E., Kronmal, G.S., Lauer, P., Lee, V.K., Locb, D.B., Mapa, F.A., McClelland, E., Meyer, N.C., Mintier, G.A., Moeller, N., Moore, T., Morikang, E., Prass, C.E., Qiuntana, L., Starnes, S.M., Schatzmann, R.C., Brunke, K.J., Drauna, 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.
3. Feder, J.N., Penny, D.M., Irrinki, A., Lee, V.K., Lebron, J.A., Watson, N., Tsuchihashi, Z., Sigal, E., Bjorkman, P.J. & Schatzmann, R.C. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proceedings of the National Academy of Sciences of the United States of America, 95, 1472-1477.
4. 2-microglobulin interaction and cell surface expression. Journal of Biological Chemistry, 272, 14025-14028.
5. Fischer, R., Engelhardt, R., Nielsen, P., Gabbe, E.E., Schmiegel, W.H., Wurbs, D. & Heinrich, U.C. (1992) Liver iron quantification in the diagnosis and therapy control of iron overload patients. Biomagnetism: Clinical Aspects (ed. by M. Hoke et al). pp. 585-588. Elsevier. Amsterdam.
6. Gottschalk, R., Seidl, C., Löffler, T., Seifried, E., Hoelzer, D. & Kaltwasser, J.P. (1998) HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis. Tissue Antigens, 51, 270-275.
7. Jazwinska, E.C., Cullen, L.M., Busfield, F., Pyper, W.R., Webb, S.I., Powell, L.W., Morris, C.P. & Walsh, T.P. (1996) Haemochromatosis and HLA-H. Nature Genetics, 14, 249-251.
8. Jouanolle, A.M., Fergelot, P., Gandon, G., Yaouang, J., LeGall, J.Y. & David, V. (1997) A candidate gene for hemochromatosis: frequency of the C282Y and H62D mutations. Human Genetics, 100, 544-547.
9. Merryweather-Clarke, A.T., Pointon, J.J., Shearman, J.D. & Robson, K.J. (1997) Global prevalence of putative haemochromatosis mutations. Journal of Medical Genetics, 34, 275-278.
10. Nielsen, P., Benn, H.P., Peters, C., Fischer, R., Darda, D., Knoedler, B., Gabbe, E.E. & Kuehnl, P. (1995) Iron status in prospective blood donors. Infusionstherapie and Transfusionsmedizin, 22, (Suppl. 1). 142-144.
11. Piperno, A., Sampietro, M., Pietrangelo, A., Arosio, C., Lupica, L., Montosi, G., Veregani, A., Fraquelli, M., Girelli, D., Pasquero, P., Roetto, A., Gasparini, P., Fargion, S., Conte, D. & Camaschella, C. (1998) Heterogeneity of hemochromatosis in Italy. Gastroenterology, 114, 996-1002.