Información de la revista
Vol. 105. Núm. 4.
Páginas 148-152 (enero 2008)
Vol. 105. Núm. 4.
Páginas 148-152 (enero 2008)
Acceso a texto completo
Hemocromatosis. nuevos aspectos clínicos y diagnósticos
Hemocromatosis. new clinical aspects and diagnoses
Hemokromatosia. alderdi kliniko eta diagnostiko berriak
Visitas
35322
Albert Altes-Hernández*
Presidente de la Asociación Española de Hemocromatosis. Servicio de Hematología Clínica. Hospital de la Santa Creu i Sant Pau. Barcelona. España. UE.
Este artículo ha recibido
Información del artículo
El Texto completo está disponible en PDF
Referencias
[1.]
Distante S., Robseon K.J.H., Graham-Campbell J., Arnaiz-Villena A., Brissot P., Worwood M..
The origin and spread of the HFE-C282Y haemochromatosis mutation.
Hum Genet., 115 (2004), pp. 269-279
[2.]
Altes A., Ruiz A., Barcelö M.J., Remacha A.F., Puig T., Maya A.J., Castell C., Amate J.M., Saz Z., Baiget M..
Prevalence of C282Y, H63D and S65C mutations of HFE gene in 1146 newborns from a region of northern Spain.
Genetic Testing, 8 (2004), pp. 407-410
[3.]
Sanchez M., Bruguera M., Quintero E., col..
Hereditary hemochromatosis in Spain.
Genet Test, 4 (2000), pp. 171-176
[4.]
Beutler E..
The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.
Blood, 101 (2003), pp. 3347-3350
[5.]
Ajioka R.S., Kushner J.P..
Clinical consequences of iron overload in hemochromatosis homozygotes.
Blood, 101 (2003), pp. 3351-3354
[6.]
Girouard J., Giguere Y., Delage R., et al.
Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients.
Hum Mol Genet., 11 (2002), pp. 185-189
[7.]
Tomatsu S., Orii K.O., Fleming R.E., et al.
Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.
Proc Natl Acad Sci U S A, 100 (2003), pp. 15788-15793
[8.]
Mura C., Raguenes O., Férec C..
HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis.
Blood, 8 (1999), pp. 2502
[9.]
Pietrangelo A..
Hereditary Hemochromatosis – A new look at an old disease.
N Engl J Med., 350 (2004), pp. 2383-2397
[10.]
Zhou X.Y., Tomatsu S., Fleming R.E., et al.
HFE gene knockout produces mouse model of hereditary haemochromatosis.
Proc Natl Acad Sci USA, 95 (1998), pp. 2492-2497
[11.]
Levy J.e., Montross L.K., Cohen D.E., et al.
The C282Y mutation causing hereditary haemochromatosis does not produce a null allele.
Blood, 95 (1999), pp. 2492-2497
[12.]
Feder J.N., Penny D.M., Irrinki A., et al.
The haemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.
Proc Natl Acad Sci USA, 95 (1998), pp. 1472-1477
[13.]
Lebron J.A., Bennett M.J., Vaughn D.E., et al.
Crystal structure of haemochromatosis protein HFE and characterization of its interaction with transferrin receptor.
Cell, 93 (1998), pp. 111-123
[14.]
Krause A., Neitz S., Magert H.J., et al.
LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity.
FEBS Lett., 480 (2000), pp. 147-150
[15.]
Pigeon C., Ilyn G., Courselaud B., et al.
A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload.
J Biol Chem., 276 (2001), pp. 7811-7819
[16.]
Ganz T..
Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation.
Blood, 102 (2003), pp. 783-788
[17.]
Bridle K.R., Frazer D.M., Wilkins S.J., et al.
Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.
Lancet, 361 (2003), pp. 669-673
[18.]
Gehrke S.G., Kulaksiz H., Herrmann T., et al.
Expression of hepcidin in hereditary hemochromatosis: Evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron.
Blood, 102 (2003), pp. 371-376
[19.]
Papanikolau G y., col..
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Nature genetics, 36 (2004), pp. 77-82
[20.]
Roetto A., et al.
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R).
Blood, 103 (2004), pp. 2407-2409
[21.]
Nicolas G y., col..
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice.
PNAS, 98 (2001), pp. 8780-8785
[22.]
Camaschella C., Roetto A., Cali A., col..
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
Nat Genet., 25 (2000), pp. 14-15
[23.]
Mattman A., Huntsman D., Lockitch G., col..
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
Blood, 100 (2002), pp. 1075-1077
[24.]
Girelli D., Bozzini C., Roetto A., col..
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene.
Gastroenterology, 122 (2002), pp. 1295-1302
[25.]
Pietrangelo A..
The ferroportin disease.
Blood Cells, Molecules and Diseases, 32 (2004), pp. 131-138
[26.]
Gordeuk V.R..
Iron overload in africans and african-americans and a common mutation in the SCL40A1 (ferroportin 1) gene.
Blood Cells, Molecules and Diseases, 31 (2003), pp. 299-304
[27.]
Kato J., Fujikawa K., Kanda M., et al.
A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.
Am J Hum Genet., 69 (2001), pp. 191-197
[28.]
Kawabata H., Fleming R.E., Gui D., Moon S.Y., Saitoh T., O'Kelly J., Umehara Y., Wano Y., Said J.W., Koeffler H.P..
Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis.
Blood, (2004),
[29.]
Jacolot S., Gac G., Scotet V., Quere I., Mura C., Ferec C..
HAMP as a modifier gene that increase the phenotypic expression of the HFE p.C282Y homozygous genotype.
Blood, (2003),
[30.]
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..
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
Human Molecular Genetics, 12 (2003), pp. 2241-2247
[31.]
Niederau C., Fischer R., Pürschel A., Stremmel W., Strohmeyer G..
Long-term survival in patients with hereditary hemochromatosis.
Gastroenterology, 110 (1996), pp. 1107-1119
[32.]
Brittenham G.M., Badman D.G..
Noninvasive measurement of iron: report of an NIDDK workshop.
Blood, 101 (2003), pp. 15-19
[33.]
Casañas R., Scharfetter H., Altes A., Remacha A., Sarda P., Sierra J., Merwa R., Hollaus K., Rosell J..
Measurement of liver iron overload by magnetic induction using a planar gradiometer: preliminary human results.
Phisiological Measurement, 25 (2004), pp. 315-323
[34.]
Gandon Y., Olivié D., Guyader D., et al.
Non-invasive assessment of hepatic iron stores by MRI.
Lancet, 363 (2004), pp. 357-362
[35.]
Alustiza J.M., Artetxe J., Castiella A., et al.
MR quantification of hepatic iron concentration.
Radiology, 230 (2004), pp. 479-484
[36.]
Kaltwasser JP. Juvenile hemochromatosis. In Hemochromatosis. Ed Barton JC and Edwards CQ. Cambridge University Press. First edition. Pgs: 318-328
Copyright © 2008. Academia de Ciencias Médicas de Bilbao