Revisiting hereditary hemochromatosis: Current concepts and progress

被引:40
作者
Md, AWY [1 ]
Mph, TLFM [1 ]
Bowlus, CL [1 ]
机构
[1] Univ Calif Sacramento, Davis Med Ctr, Dept Internal Med, Sacramento, CA 95817 USA
关键词
hemochromatosis; iron overload; HFE; C282Y;
D O I
10.1016/j.amjmed.2005.10.041
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Originally regarded as a rare affliction notable for its distinctive evolution to "bronze diabetes," hereditary hemochromatosis is now recognized as the most common genetic disorder in populations of European ancestry. Recent advances in our understanding of iron metabolism, the identification of the gene responsible for hemochromatosis, and large epidemiologic studies have changed the diagnostic approach toward patients with hereditary hemochromatosis and other forms of iron overload. This article reviews the pathophysiology, epidemiology, clinical features, diagnostic testing, and management of hemochromatosis for the primary care provider. (c) 2006 Elsevier Inc. All rights reserved.
引用
收藏
页码:391 / 399
页数:9
相关论文
共 61 条
  • [1] Hemochromatosis and iron-overload screening in a racially diverse population
    Adams, PC
    Reboussin, DM
    Barton, JC
    McLaren, CE
    Eckfeldt, JH
    McLaren, GD
    Dawkins, FW
    Acton, RT
    Harris, EL
    Gordeuk, VR
    Leiendecker-Foster, C
    Speechley, M
    Snively, BM
    Holup, JL
    Thomson, E
    Sholinsky, P
    Acton, RT
    Barton, JC
    Dixon, D
    Rivers, CA
    Tucker, D
    Ware, JC
    McLaren, CE
    McLaren, GD
    Anton-Culver, H
    Baca, JA
    Bent, TC
    Brunner, LC
    Dao, MM
    Jorgensen, KS
    Kuniyoshi, J
    Le, HD
    Masatsugu, MK
    Meyskens, FL
    Morohashi, D
    Nguyen, HP
    Panagon, SN
    Phung, C
    Raymundo, V
    Ton, T
    Walker, AP
    Wenzel, LB
    Ziogas, A
    Adams, PC
    Bloch, E
    Chakrabarti, S
    Fleischhauer, A
    Harrison, H
    Jia, K
    Larson, S
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (17) : 1769 - 1778
  • [2] ADAMS PC, 1991, AM J MED, V90, P445
  • [3] Adams PC, 1997, HEPATOLOGY, V25, P162, DOI 10.1002/hep.510250130
  • [4] Hemochromatosis mutations in the general population: iron overload progression rate
    Andersen, RV
    Tybjaerg-Hansen, A
    Appleyard, M
    Birgens, H
    Nordestgaard, BG
    [J]. BLOOD, 2004, 103 (08) : 2914 - 2919
  • [5] Medical progress: Disorders of iron metabolism
    Andrews, NC
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1999, 341 (26) : 1986 - 1995
  • [6] [Anonymous], BLOOD CELLS MOL DIS
  • [7] Management of hemochromatosis
    Barton, JC
    McDonnell, SM
    Adams, PC
    Brissot, P
    Powell, LW
    Edwards, CQ
    Cook, JD
    Kowdley, KV
    [J]. ANNALS OF INTERNAL MEDICINE, 1998, 129 (11) : 932 - 939
  • [8] The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
    Beutler, E
    Felitti, V
    Gelbart, T
    Ho, N
    [J]. ANNALS OF INTERNAL MEDICINE, 2000, 133 (05) : 329 - 337
  • [9] Beutler Ernest, 1996, Blood Cells Molecules and Diseases, V22, P187, DOI 10.1006/bcmd.1996.0027
  • [10] Clinical management of hepatocellular carcinoma.: Conclusions of the Barcelona-2000 EASL Conference
    Bruix, J
    Sherman, M
    Llovet, JM
    Beaugrand, M
    Lencioni, R
    Burroughs, AK
    Christensen, E
    Pagliaro, L
    Colombo, M
    Rodés, J
    [J]. JOURNAL OF HEPATOLOGY, 2001, 35 (03) : 421 - 430