Genetic background of primary iron overload syndromes in Japan

Internal Medicine

Volumn 45, Issue 20, 2006, Pages 1107-1111

  Hayashi, Hisao ^a   Wakusawa, Shinya ^b   Motonishi, Satoshi ^c   Miyamoto, Ken Ichi ^c   Okada, Hidetoshi ^c   Inagaki, Yasutaka ^d   Ikeda, Takaaki ^e  

^a AICHI GAKUIN UNIVERSITY   (Japan)

^b NAGOYA UNIVERSITY   (Japan)

^c KANAZAWA UNIVERSITY   (Japan)

^d NIPPON KOKAN HOSPITAL   (Japan)

^e YOKOSUKA KYOSAI HOSPITAL   (Japan)

Author keywords

Ferroportin disease; Hemochromatosis

Indexed keywords

FERRITIN; FERROPORTIN 1; HEMOJUVELIN; HFE PROTEIN; IRON; TRANSFERRIN RECEPTOR 2;

AUTOSOMAL DOMINANT DISORDER; ETHNIC DIFFERENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; JAPAN; MUTATIONAL ANALYSIS; ONSET AGE; POPULATION GENETICS; PREVALENCE; REVIEW;

ADULT; AGED; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CATION TRANSPORT PROTEINS; FEMALE; FERRITINS; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; JAPAN; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; PREGNANCY PROTEINS; RECEPTORS, TRANSFERRIN;

EID: 33751172502     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.45.1876     Document Type: Review

References (51)

1. Britton R. Metal-induced hepatotoxicity. Semin Liver Dis 16: 2-12, 1996.
2. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13: 399-408, 1996.
3. Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 25: 14-15, 2000.
4. Papanikolaou G, Politou M, Roetto A, et al. Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis 27: 744-749, 2001.
5. Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 36: 77-82, 2004.
6. Roetto A, Papanikolaou G, Plotou M, et al. Mutant antimicrobial hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 33: 21-22, 2003.
7. Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 28: 213-214, 2001.
8. Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant hemachromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 108: 619-623, 2001.
9. 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: 191-197, 2001.
10. Camaschella C, Roetto A, De Gobbi M. Genetic haemochromatosis: genes and mutations associated with iron loading. Best Pract Res Clin Haematol 15: 261-276, 2002.
11. Sham RL, Ou CY, Cappuccio J, Braggins C, Dunnigan K, Phatak PD. Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases. Blood Cells Mol Dis 23: 314-320, 1997.
12. Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 341: 718-724, 1999.
13. Miyajima H, Nishimura Y, Mizoguchi K, Sakamoto M, Shimizu T, Honda N. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 37: 761-767, 1987.
14. Yoshida K, Furihata K, Takeda S, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 9: 267-272, 1995.
15. Sohda T, Okubo R, Kamimura S, Ohkawara T. Hemochromatosis with HFE gene mutation in a Japanese patient. Am J Gastroenterol 96: 2487-2488, 2001.
16. Imanishi H, Liu W, Cheng J, Ikeda N, Amuro Y, Hada T. Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene. Intern Med 40: 479-483, 2001.
17. Koyama C, Hayashi H, Wakusawa S, et al. Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. J Hepatol 43: 740-742, 2005.
18. Hattori A, Wakusawa S, Hayashi H, et al. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol Res 26: 154-156, 2003.
19. Koyama C, Wakusawa S, Hayashi H, et al. Two novel mutations, L490R and V561X, in the transferrin receptor 2 in Japanese patients with hemochromatosis. Haematologica 90: 302-307, 2005.
20. Liu W, Shimomura S, Imanishi H, et al. Hemocromatosis with mutation of the ferroportin 1 (IREG1) gene. Intern Med 44: 285-289, 2005.
21. Koyama C, Wakusawa S, Hayashi H, et al. A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron. Intern Med 44: 990-993, 2005.
22. Sohda T, Yanai J, Soejima H, Tamura K. Frequencies in the Japanese populations of the HFE gene. Biochem Genet 37: 63-68, 1999.
23. Shiono Y, Ikeda R, Hayashi H, et al. C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan. Intern Med 40: 852-856, 2001.
24. Shiono Y, Hayashi H, Wakusawa S, et al. Body iron stores and iron restoration rate in Japanese patients with chronic hepatitis C as measured during therapeutic iron removal revealed neither increased iron stores nor effects of C282Y and H63D mutations on iron indices. Nagoya J Med Sci 64: 51-57, 2001.
25. Lanzara C, Roetto A, Daraio F, et al. Spectrum of hemejuvelin gene mutations in 1q-1inked juvenile hemochromatosis. Blood 103: 4317-4321, 2004.
26. Huang FW, Rubio-Aliaga I, Kushner JP, Andrews NC, Fleming MD. Identification of a novel mutation (C321X) in HJV. Blood 104: 2176-2177, 2004.
27. Lee PL, Beutler E, Rao SV, Barton JC. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 103: 4669-4671, 2004.
28. Lee PL, Barton JC, Brandhagen D, Beutler E. Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. Br J Haematol 127: 224-229, 2004.
29. Roetto A, Totaro A, Piperno A, et al. New mutation inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 97: 2555-2560, 2001.
30. Barton EH, West PA, Rivers CA, Barton JC, Acton RT. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. Blood Cells Mol Dis 27: 279-284, 2001.
31. Lee PL, Halloran C, West C, Beutler E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol Dis 27: 285-289, 2001.
32. Gordeuk VR, Caleffi A, Corradini E, et al. Iron overload in Africans and African-Americans and a common mutation in the SCL 40A1 (ferroportin 1) gene. Blood Cells Mol Dis 31: 299-304, 2003.
33. Beutler E, Barton JC, Felitti VJ, et al. Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells Mol Dis 31: 305-309, 2003.
34. Cemonesi L, Forni GL, Soriani N, et al. Genetic and clinical heterogeneity of ferroportin disease. Br J Haematol 131: 663-670, 2005.
35. Fujita J, Inagaki Y, Yonei Y, et al. A Japanese case of idiopathic hemochromatosis with analysis of HFE gene mutations and a review of literature on HLA phenotyptes in the Japanese cases. Nippon Shokakibyo Gakkaisi 97: 472-477, 2000 (in Japanese).
36. Barton JC, Lee PL, Bertoli LF, Beutler E. Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene. Blood Cells Mol Dis 34: 226-228, 2005.
37. Monteleone G, Del Vecchio Blanco G, Monteleone I, et al. Post-transcriptional regulation of Smad7 in the gut of patients with inflammatory bowel disease. Gastroenterology 129: 1420-1429, 2005.
38. Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet 12: 2241-2247, 2003.
39. Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood 103: 2835-2840, 2004.
40. Biasiotto, G, Roetto A, Daraio F, et al. Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele. Blood Cells Mol Dis 33: 338-343, 2004.
41. Pietrangelo A, Caleffi A, Henrion J, et al. Juvenilde hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. Gastroenterology 128: 47-49, 2005.
42. Ryan E, Byrnes V, Coughlan B, et al. Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration? Gut 51: 108-112, 2002.
43. Deugnier Y, Jouanolle AM, Chaperon J, et al. Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people. Br. J Haematol 118: 1170-1178, 2002.
44. Lazarescu A, Snively BM, Adams PC. Phenotype variation in C282Y homozygotes for the hemochromatosis gene. Clin Gastroenterol Hepatol 3: 1043-1046, 2005.
45. Scotet V, Merour MC, Mercier AY, et al. Hereditary homochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation. Am J Epidmiol 158: 129-134, 2003.
46. Geier A, Gartung C, Theurl I, et al. Occult celiac disease prevents penetrance of hemochromatosis. World J Gastroenterol 11: 3323-3326, 2005.
47. Laine F, Jouannolle AM, Morcet J, et al. Phenotypic expression in detected C282Y homozygous women depends on body mass index. J Hepatol 43: 1055-1059, 2005.
48. Le Gac G, Mons F, Jacolot S, Scotet S, Ferec C, Frebourg T. Early onset hereditary homochromatosis resulting from a novel TFR2gene nonsense mutation (R105X) in two siblings of north French descent. Br J Haematol 125: 674-678, 2004.
49. Russo-Mancuso G, Branciforte F, Licciardello M, La Spina M. Iron deficiency anemia as the only sign of infection with Helicobacter pylori: a report of 9 pediatric cases. Int J Hematol 78: 429-431, 2003.
50. Wallace DF, Clark RM, Harley HA, Subramaniam VN. Autosamal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. J Hepatol 40: 710-713, 2004.
51. Pietrangelo A. Hereditary hemochromatosis-a new look at an old disease. N Engl J Med 350: 2383-2397, 2004.