HFE and non-HFE hemochromatosis

International Journal of Hematology

Volumn 76, Issue 3, 2002, Pages 203-207

  Anderson, Gregory J ^a,b   Powell, Lawrie W ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

Hemochromatosis; HFE; IREG1; Iron; Iron overload; TfR2; Thalassemia

Indexed keywords

BETA 2 MICROGLOBULIN; CD71 ANTIGEN; HFE PROTEIN; IRON; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

ARTICLE; DUODENUM; GENE MUTATION; GENETIC DISORDER; HEART; HEMOCHROMATOSIS; HOMEOSTASIS; IRON BLOOD LEVEL; IRON INTAKE; IRON METABOLISM DISORDER; IRON OVERLOAD; IRON TRANSPORT; LIVER DISEASE; MEDICAL ASSESSMENT; MOLECULAR BIOLOGY; PANCREAS; PROTEIN ANALYSIS; TRANSFERRIN BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; GENETICS; HUMAN; MASS SCREENING; METABOLISM; PATHOLOGY; PHYSIOLOGY; POINT MUTATION; REVIEW;

DIAGNOSIS, DIFFERENTIAL; DUODENUM; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMEOSTASIS; HUMANS; IRON; LIVER DISEASES; MASS SCREENING; MEMBRANE PROTEINS; POINT MUTATION;

EID: 0036782739     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf02982788     Document Type: Article

References (23)

1. Anderson GJ. Ironing out disease: inherited disorders of iron homeostasis. IUBMB Life. 2001;51:11-17.
2. Bacon BR, Powell LW, Adams PC, et al. Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology. 1999;116:193-207.
3. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet. 1996;13:399-408.
4. Guyader D, Jacquelinet C, Moirand R, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology. 1998;11:929-936.
5. George DK, Ramm GA, Walker NI, et al. Elevated serum type IV collagen: a sensitive indicator of the presence of cirrhosis in hemochromatosis. J Hepatol. 1999;31:47-52.
6. Cullen LM, Anderson GJ, Ramm GA, Jazwinska EC, Powell LW. Genetics of hemochromatosis. Annu Rev Med. 1999;50:87-98.
7. Anderson GJ, Vulpe CD. Regulation of intestinal iron transport. In: Templeton DM, ed. Molecular and Cellular Iron Transport. New York: Marcel Dekker; 2002:559-596.
8. Trinder D, Olynyk JK, Sly WS, Morgan EH. Iron uptake from plasma transferrin by the duodenum is impaired in the HFE knock-out mouse. Proc Natl Acad Sci. 2002;99:5622-5626.
9. Tavill AS. Management of hemochromatosis. (AASLD Practice Guidelines) Hepatology. 2001;33:1321-1328.
10. EASL International Consensus Conference on Hemochromatosis. J Hepatol. 2000;33:485-504.
11. Camaschella C, Roetto A, De Gobbi M, et al. Non-HFE hemochromatosis. In: Proceedings from the World Congress on Iron Metabolism. August 18-23, 2001. Cairns, Australia.
12. Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of hemochromatosis mapping to 7q22. Nat Genet. 2000;25:14-15.
13. Pietrangelo A, Montosi G, Totaro A, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med. 1999;341:725-732.
14. Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest. 2001;108:619-623.
15. Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001;28:213-214.
16. Wallace DF, Pedersen P, Dixon JL, et al. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood. 2002;100:692-694.
17. 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. 2001;69:191-197.
18. Eason RJ, Adams PC, Aston CE, Searle J. Familial iron overload with possible autosomal dominant inheritance. Aust NZ J Med. 1990;20:226-230.
19. Roberts AG, Whatley SD, Morgan RR, et al. Increased frequency of the hemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet. 1997;349:321-323.
20. Stuart KA, Busfield F, Jazwinska EC, et al. The C282Y mutation in hemochromatosis (HFE) gene and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients. J Hepatol. 1998;28:404-409.
21. Sampietro M, Piperno A, Lupica L, et al. High prevalence of His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology. 1998;27:181-184.
22. Sullivan JL. Iron and the genetics of cardiovascular disease [editorial; comment]. Circulation. 1999;100:1260-1263.
23. Angelucci E, Brittenham GM, McLaren CE, et al. Hepatic iron concentration and total body iron stores in thalassemia major. N Engl J Med. 2000;343:327-331.