Recent advances in hemochromatosis: a 2015 update : a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia.

作者: Dilum Ekanayake , Clinton Roddick , Lawrie W. Powell

DOI: 10.1007/S12072-015-9608-2

关键词: Hereditary hemochromatosisHfe geneCascade screeningLethargyPathologyGene mutationDiseaseMedicineGenetic testingBioinformaticsHemochromatosis

摘要: This review focuses on iron metabolism, the genetics of hemochromatosis, current treatment protocols and various screening methods. Even though most common form hereditary C282Y gene mutations in HFE gene, has been extensively studied, novel both non-HFE genes have implicated this disease. These important implications for Asia-Pacific region. In overload, deposition body tissues leads to toxic damage. Patients commonly present with non-specific symptoms malaise lethargy. Biochemical, imaging genetic testing can be carried out confirm diagnosis. Venesection forms mainstay at cascade affected families is recommended over population-level screening.

参考文章(52)
G. Bleijenberg, D.W. Swinkels, N. Aalbers, C.M.A. Swanink, J.W.M. van der Meer, L.D. Elving, Primary haemochromatosis: a missed cause of chronic fatigue syndrome? Netherlands Journal of Medicine. ,vol. 60, pp. 429- 433 ,(2002)
Pushpjeet Kanwar, Kris V. Kowdley, Metal Storage Disorders Medical Clinics of North America. ,vol. 98, pp. 87- 102 ,(2014) , 10.1016/J.MCNA.2013.09.008
G. Robert Greenberg, Maxwell M. Wintrobe, A labile iron pool. Journal of Biological Chemistry. ,vol. 165, pp. 397- 398 ,(1946) , 10.1016/S0021-9258(17)41250-6
Hiromi Gunshin, Bryan Mackenzie, Urs V. Berger, Yoshimi Gunshin, Michael F. Romero, Walter F. Boron, Stephan Nussberger, John L. Gollan, Matthias A. Hediger, Cloning and characterization of a mammalian proton-coupled metal-ion transporter Nature. ,vol. 388, pp. 482- 488 ,(1997) , 10.1038/41343
Karl Y. Guggenheim, Chlorosis: the rise and disappearance of a nutritional disease Journal of Nutrition. ,vol. 125, pp. 1822- 1825 ,(1995) , 10.1093/JN/125.7.1822
Cameron J McDonald, Daniel F Wallace, Darrell H G Crawford, V Nathan Subramaniam, Iron storage disease in Asia‐Pacific populations: The importance of non‐HFE mutations Journal of Gastroenterology and Hepatology. ,vol. 28, pp. 1087- 1094 ,(2013) , 10.1111/JGH.12222
John K. Olynyk, Digby J. Cullen, Sina Aquilia, Enrico Rossi, Lesa Summerville, Lawrie W. Powell, A Population-Based Study of the Clinical Expression of the Hemochromatosis Gene The New England Journal of Medicine. ,vol. 341, pp. 718- 724 ,(1999) , 10.1056/NEJM199909023411002
Antonello Pietrangelo, Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment Gastroenterology. ,vol. 139, pp. 393- 408 ,(2010) , 10.1053/J.GASTRO.2010.06.013
Paolo Arosio, Rosaria Ingrassia, Patrizia Cavadini, Ferritins: a family of molecules for iron storage, antioxidation and more. Biochimica et Biophysica Acta. ,vol. 1790, pp. 589- 599 ,(2009) , 10.1016/J.BBAGEN.2008.09.004
Clara Camaschella, Erika Poggiali, Rare Types of Genetic Hemochromatosis Acta Haematologica. ,vol. 122, pp. 140- 145 ,(2009) , 10.1159/000243798