Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder

European Journal of Haematology

Volumn 73, Issue 1, 2004, Pages 43-49

  Viprakasit, Vip ^a,b   Vathesathokit, Prin ^b   Chinchang, Worrawut ^a   Tachavanich, Kalaya ^a   Pung Amritt, Parichat ^a   Wimhurst, Victoria L C ^b   Yenchitsomanus, Pa Thai ^a   Merryweather Clarke, Alison T ^b   Tanphaichitr, Voravarn S ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

HFE mutations; Homozygous haemoglobin E; Thalassaemia

Indexed keywords

FERRITIN; HEMOGLOBIN E; IRON;

ALLELE; BETA THALASSEMIA; CONFERENCE PAPER; CONTROLLED STUDY; DNA SPLICING; FAMILIAL INCIDENCE; FERRITIN BLOOD LEVEL; GENE FREQUENCY; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC RISK; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; IRON BLOOD LEVEL; IRON DEFICIENCY; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; FEMALE; FERRITINS; GENE FREQUENCY; HEMOGLOBIN E; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MUTATION; RNA SPLICING; THAILAND;

EID: 3042569669     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2004.00246.x     Document Type: Conference Paper

References (55)

1. WEATHERALL DJ, CLEGG JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 2001;79:704-712.
2. WEATHERALL DJ, CLEGG JB. (eds) The Thalassaemia Syndromes, 4th edn. Oxford: Blackwell Science, 2001.
3. PORTER JB. Practical management of iron overload. Br J Haematol 2001;115:239-252.
4. WEATHERALL DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2001;2:245-255.
5. FEDER JN, GNIRKE A, THOMAS W et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
6. MERRYWEATHER-CLARKE AT, POINTON JJ, SHEARMAN JD, ROBSON KJ. Global prevalence of putative haemochromatosis mutations. J Med Genet 1997;34:275-278.
7. MERRYWEATHER-CLARKE AT, POINTON JJ, JOUANOLLE AM, ROCHETTE J, ROBSON KJ. Geography of HFE C282Y and H63D mutations. Genet Test 2000;4:183-198.
8. REES DC, LUO LY, THEIN SL, SINGH BM, WICKRAMASINGHE S. Nontransfusional iron overload in thalassaemia: association with hereditary haemochromatosis. Blood 1997;90:3234-3236.
9. CAPPELLINI MD, FARGION SR, SAMPIETRO M, GRAZIADEI G, FIORELLI G. Nontransfusional iron overload in thalassaemia intermedia: role of the haemochromatosis allele. Blood 1998;92:4479-4480.
10. LONGO F, ZECCHINA G, SBAIZ L, FISCHER R, PIGA A, CAMASCHELLA C. The influence of haemochromatosis mutations on iron overload of thalassaemia major. Haematologica 1999;84:799-803.
11. PIPERNO A, MARIANI R, AROSIO C et al. Haemochromatosis in patients with beta-thalassaemia trait. Br J Haematol 2000;111:908-914.
12. AGUILAR-MARTINEZ P, SCHVED JF, BADENS C et al. Iron overload in thalassaemias and genetic haemochromatosis. Eur J Haematol 2000;64:279-280.
13. RUIZ-ARGUELLES GJ, GARCES-EISELE J, REYES-NUNEZ V, SANCHEZ-ANZALDO J, RUIZ-DELGADO GJ, JIMENEZ-GONZALEZ C, CARRERA B. Heterozygosity for the H63D mutation in the hereditary haemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassaemia minor: observations in a thalassemic kindred. Rev Invest Clin 2001;53:117-120.
14. MELIS MA, CAU M, DEIDDA F, BARELLA S, CAO A, GALANELLO R. H63D mutation in the HFE gene increases iron overload in beta-thalassaemia carriers. Haematologica 2002;87:242-245.
15. FUCHAROEN S, WINICHAGOON P. Haemoglobinopathies in Southeast Asia: molecular biology and clinical medicine. Haemoglobin 1997;21:299-319.
16. FUCHAROEN S. Haemoglobin E disorders. In: NAGEL RL, ed. Disorders of Haemoglobin. Cambridge, UK: Cambridge University Press; 2001:1139-1154.
17. HUISMAN TH, CARVER MF, EFREMOV GD. A Syllabus of Human Haemoglobin Variant, 2nd edn. Augusta, GA: The Sickle Cell Anemia Foundation, 1998.
18. FUCHAROEN S, KETVICHIT P, POOTRAKUL P, SIRITANARATKUL N, PIANKIJAGUM A, WASI P. Clinical manifestation of beta-thalassaemia/haemoglobin E disease. J Pediatr Hematol Oncol 2000;22:552-557.
19. STEINER M, OCRAN K, GENSCHEL J et al. A homozygous HFE gene splice site mutation (IVS5 + 1 G/A) in a hereditary haemochromatosis patient of Vietnamese origin. Gastroenterology 2002;122:789-795.
20. POINTON JJ, VIPRAKASIT V, MILES KL, LIVESEY KJ, STEINER M, O'RIORDAN S, HIEN TT, MERRYWEATHER-CLARKE AT, ROBSON KJ. Haemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload. Blood Cells Mol Dis 2003;30:302-306.
21. ROCHETTE J, POINTON JJ, FISHER CA et al. Multicentric origin of haemochromatosis gene (HFE) mutations. Am J Hum Genet 1999;64:1056-1062.
22. PARK CH, VALORE EV, WARING AJ, GANZ T. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 2001;276:7806-7810.
23. NICOLAS G, CHAUVET C, VIATTE L, DANAN JL, BIGARD X, DEVAUX I, BEAUMONT C, KAHN A, VAULONT S. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J Clin Invest 2002;110:1037-1044.
24. PIGEON C, ILYIN G, COURSELAUD B, LEROYER P, TURLIN B, BRISSOT P, LOREAL O. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 2001;276:7811-7819.
25. MONTOSI G, DONOVAN A, TOTARO A, GARUTI C, PIGNATTI E, CASSANELLI S, TRENOR CC, GASPARINI P, ANDREWS NC, PIETRANGELO A. Autosomal-dominant haemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-623.
26. NJAJOU OT, VAESSEN N, JOOSSE M et al. A mutation in SLC11A3 is associated with autosomal dominant haemochromatosis. Nat Genet 2001;28:213-214.
27. DEVALIA V, CARTER K, WALKER AP, PERKINS SJ, WORWOOD M, MAY A, DOOLEY JS. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002;100:695-697.
28. ROETTO A, MERRYWEATHER-CLARKE AT, DARAIO F, LIVESEY K, POINTON JJ, BARBABIETOLA G, PIGA A, MACKIE PH, ROBSON KJ, CAMASCHELLA C. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood 2002;100:733-734.
29. WALLACE DF, PEDERSEN P, DIXON JL, STEPHENSON P, SEARLE JW, POWELL LW, SUBRAMANIAM VN. Novel mutation in ferroportin1 is associated with autosomal dominant haemochromatosis. Blood 2002;100:692-694.
30. ROETTO A, PAPANIKOLAOU G, POLITOU M, ALBERTI F, GIRELLI D, CHRISTAKIS J, LOUKOPOULOS D, CAMASCHELLA C. Mutant antimicrobial peptide hepcidin is associated with severe juvenile haemochromatosis. Nat Genet 2003;33:21-22.
31. FLEMING RE, HOLDEN CC, TOMATSU S, WAHEED A, BRUNT EM, BRITTON RS, BACON BR, ROOPENIAN DC, SLY WS. Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary haemochromatosis. Proc Natl Acad Sci USA 2001;98:2707-2711.
32. DUPIC F, FRUCHON S, BENSAID M et al. Inactivation of the haemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains. Gastroenterology 2002;122:745-751.
33. MUCKENTHALER M, ROY CN, CUSTODIO AO, MINANA B, DEGRAAF J, MONTROSS LK, ANDREWS NC, HENTZE MW. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse haemochromatosis. Nat Genet 2003;34:102-107.
34. NICOLAS G, VIATTE L, LOU DQ, BENNOUN M, BEAUMONT C, KAHN A, ANDREWS NC, VAULONT S. Constitutive hepcidin expression prevents iron overload in a mouse model of haemochromatosis. Nat Genet 2003;34:97-101.
35. 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 Genetics 2003;12:2241-2247.
36. FEDER JN, TSUCHIHASHI Z, IRRINKI A et al. The haemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem 1997;272:14025-14028.
37. FEDER JN, PENNY DM, IRRINKI A, LEE VK, LEBRON JA, WATSON N, TSUCHIHASHI Z, SIGAL E, BJORKMAN PJ, SCHATZMAN RC. The haemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998;95:1472-1477.
38. MORTIMORE M, MERRYWEATHER-CLARKE AT, ROBSON KJ, POWELL LW. The haemochromatosis gene: a global perspective and implications for the Asia-Pacific region. J Gastroenterol Hepatol 1999;14:838-843.
39. CHANG JG, LIU TC, LIN SF. Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in haemochromatosis by polymerase chain reaction - a very rare mutation in the Chinese population. Blood 1997;89:3492-3493.
40. CHOI SJ, MIN WK, CHUN S, PARK H, KIM JW, PARK CJ, CHI HS. Frequencies of C282Y and H63D mutations and transferrin saturation indices in the Korean population. Clin Chem Lab Med 2002;40:689-692.
41. CULLEN LM, GAO X, EASTEAL S, JAZWINSKA EC. The haemochromatosis 845 G → A and 187 C → G mutations: prevalence in non-Caucasian populations. Am J Hum Genet 1998;62:1403-1407.
42. MA ESK, LAM KKY, TAN-UN KC. The haemochromatosis and iron overload in Chinese patients with β-thalassaemia. In: ACUTO S, ed. The 9th International Conference on Thalassaemia and Haemoglobinopathies. Palermo-Italy: Thalassaemia International Foundation (TIF), 2003:P022.
43. POINTON JJ, WALLACE D, MERRYWEATHER-CLARKE AT, ROBSON KJ. Uncommon mutations and polymorphisms in the haemochromatosis gene. Genet Test 2000;4:151-161.
44. PIPPARD MJ, CALLENDER ST, WARNER GT, WEATHERALL DJ. Iron absorption and loading in beta-thalassaemia intermedia. Lancet 1979;2:819-821.
45. DYKES A, GURTLER V, FIRKIN F. Aetiology of severe iron overload in a family with hereditary haemolytic anaemia. Br J Haematol 1998;102:1179-1181.
46. BRANDENBERG JB, DEMARMELS BIASIUTTI F, LUTZ HU, WUILLEMIN WA. Hereditary spherocytosis and haemochromatosis. Ann Hematol 2002;81:202-209.
47. BORGNA-PIGNATTI C, SOLINAS A, BOMBIERI C, MICCIOLO R, GAMBERINI MR, DE STEFANO P, DE MENIS E, PIGNATTI PF. The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated. Br J Haematol 1998;103:813-816.
48. BEUTLER E, FELITTI VJ, KOZIOL JA, HO NJ, GELBART T. Penetrance of 845 G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-218.
49. PHATAK PD, RYAN DH, CAPPUCCIO J, OAKES D, BRAGGINS C, PROVENZANO K, EBERLY S, SHAM RL. Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients. Blood Cells Mol Dis 2002;29:41-47.
50. COX T, ROCHETTE J, CAMASCHELLA C, WALKER A, ROBSON K. Clinical haemochromatosis in HFE mutation carriers. Lancet 2002;360:412.
51. POULLIS A, MOODIE SJ, MAXWELL JD. Clinical haemochromatosis in HFE mutation carriers. Lancet 2002;360:411-412.
52. ALLEN KJ, WARNER B, DELATYCKI MB. Clinical haemochromatosis in HFE mutation carriers. Lancet 2002;360:412-413.
53. CHAN V, WONG MS, OOI C, CHEN FE, CHIM CS, LIANG RH, TODD D, CHAN TK. Can defects in transferrin receptor 2 and hereditary haemochromatosis genes account for iron overload in HbH disease. Blood Cells Mol Dis 2003;30:107-111.
54. CAMASCHELLA C, ROETTO A, CALI A, DE GOBBI M, GAROzzo G, CARELLA M, MAJORANO N, TOTARO A, GASPARINI P. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000;25:14-15.
55. ROETTO A, TOTARO A, PIPERNO A, PIGA A, LONGO F, GAROZZO G, CALI A, DE GOBBI M, GASPARINI P, CAMASCHELLA C. New mutations inactivating transferrin receptor 2 in haemochromatosis type 3. Blood 2001;97:2555-2560.