A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations

Human Mutation

Volumn 13, Issue 2, 1999, Pages 154-159

  Merryweather Clarke, Alison T ^a,c   Simonsen, Henrik ^b   Shearman, Jeremy D ^c   Pointon, Jennifer J ^a   Nørgaard Pedersen, Bent ^b   Robson, Kathryn J H ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b STATENS SERUM INSTITUT   (Denmark)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

C282Y; H63D; Haemochromatosis; HFE; Neonatal screening program

Indexed keywords

ARTICLE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HUMAN; NEWBORN; NEWBORN SCREENING; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; SCANDINAVIA;

ALLELES; GENES, MHC CLASS I; GENETIC SCREENING; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; MUTATION; NEONATAL SCREENING; PILOT PROJECTS; RETROSPECTIVE STUDIES; SCANDINAVIA;

EID: 0032956134     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E     Document Type: Article

References (38)

1. Adams PC. 1998. Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis. Clin Genet 53:176-178.
2. Adams PC, Gregor JC, Kertesz AE, Valberg LS. 1995. Screening blood donors tor hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterology 109:177-188.
3. Bassett ML, Leggett BA, Halliday JW, Webb S, Powell LW. 1997. Analysis of the cost ot population screening tor haemochromatosis using biochemical and genetic markers. J Hepatol 27:517-524.
4. Baty D, Kwiatkowski AT, Mechan D, Harris A, Pippard MJ, Goudic D. 1998. Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis. J Clin Pathol 51:73-74.
5. Beaumont C, Simon M, Fauchet R, Hespel JP, Brissot P, Genetet B, Bourel M. 1979. Serum ferritin as a possible marker of the haemochromatosis allele. N Engl J Med 301:169-174.
6. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti CP Phatak PD, Seese NK, Chorney KA, Elshof AET, Gerhard OS, Chorney M. 1996. Mutation analysis in hereditary haemochromatosis. Blood Cells Mol Dis 22:187-194.
7. Brissot P, Moirand R, Guyader D, Loreal O, Turlin B, Deugnier Y. 1998. Hemochromatosis after the gene discovery: revisiting the diagnostic strategy. J Hepatol 28:14-18.
8. Calandro L, Thorscn T, Barcellos L, Griggs J, Baer D, Sensabaugh GF. 1996. Mutation analysis in hereditary haemochromatosis - commentary. Blood Cells Mol Dis 22:194A-194B.
9. Cavalli-Sforza LL, Piazza A, Menozzi P 1994. History and geography of human genes. Prince ton, NJ: Princeton University Press.
10. Crawford DHG, Jazwinska EC, Cullen LM, Powell LW. 1998. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous tor the C282Y mutation. Gastroenterology 114:1003-1008.
11. Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. 1988. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 318:1355-1362.
12. Edwards CQ, Griffen LM, Ajioka RS, KushnerJP. 1998. Screening for hemochromatosis: phcnotype versus genotype. Semin Hepatol 35:72-76.
13. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Ellis MC, Fullan A, Hinton LM, Jones NL. Kimmel BE, Kronmal GS, Lauer P Lee VK, Loeb DB, Mapa FA, McClelland E, Meycr NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK. 1996. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet 13:399-409.
14. Feder JF, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC. 1998. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 95; 1472-1477.
15. Guttridge MG, Thompson J, Worwood M, Darke C. 1998. Rapid detection ot genetic mutations associated with haemochromatosis. Eur J Immunogenet 25:72.
16. Iitiä A, Høgdall E, Dahlen P, Hurskainen P Vuust J, Siitari H. 1992. Detection of mutation ΔF508 in the cystic fibrosis gene using allele-specitic PCR primers and time-resolved fluorometry. PCR Methods Appl 2:157-162.
17. Jackson HA, Bowen DJ, Worwood M. 1997. Rapid genetic screening for haemochromatosis using heteroduplex technology. Br J Haematol 98:856.
18. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, Morris CP, Walsh TP. 1996. Haemochromatosis and HLA-H. Nature Genet 14:249-251.
19. Jonsson JJ, Johannesson GM, Sigfusson N, Magnusson B, Thjodleifsson B, Magnusson S. 1991. Prevalence of iron deficiency and iron overload in the adult Icelandic population. J Clin Epidemiol 44:1289-1297.
20. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouanq J, Mosser J, Fergelot P, Chauvel B, Bouric P, Carn G, Andrieux N, Gicquel I, Le Gall J-I, David V. 1996. Haemochromatosis and HLA-H. Nature Genet 14:251-252.
21. Leggett BA, Halliday JW, Brown NN, Bryant S, Powell LW. 1990. Prevalence ot haemochromatosis amongst asymptomatic Australians. Br J Haematol 74:525-530.
22. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJH. 1997a. Global prevalence of putative haemochromatosis mutations. J Med Genet 34:275-278.
23. Merryweather-Clarke AT, Liu Y-T, Shearman JD, Pointon JJ, Robson KJH. 1997b. A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation. Br J Haematol 99:460-463.
24. Merryweather-Clarke AT, Pointon J, Shearman J, Liu Y-T, Robson K, Bomford A, Worwood M, Dooley J, Walker A. 1998a. Hemochromatosis-related mutation detection. Blood 91:2620-2621.
25. Merryweather-Clarke AT, Worwood M, Parkinson L, Mattock C, Shearman JD, Robson KJH. 1998b. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. Br J Haematol 101:369-373.
26. Milman N, Clausen JO, Jordal RSO. 1995. Iron status in young Danish men and women: a population survey comprising 548 individuals. Ann Haematol 70:215-221.
27. Mullighan CG, Bunce M, Farming GC, Marshall SE, Welsh KI. 1998. A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population. Gut 42:566-569.
28. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. 1996. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 110:1107-1119.
29. Nørgaard-Pedersen B. 1997. Use of stored samples from the Danish PKU register. In: Knoppers BM, Laberge CM, Hirtle M, editors. Human DNA: law and policy. The Hague: Kluwer Law International, p 304-311.
30. Nørgaard-Pedersen B, Høgdall E, Iitiä A, Arends J, Dahlen ?, Vuust J. 1993. Immunoreactive trypsin and a comparison of two AF508 mutation analyses in newborn screening for cystic fibrosis: an anonymous pilot study in Denmark. Screening 2:1-11.
31. Olssen KS, Ritter B, Rosen U, Heedman PA, Staugard F. 1983. Prevalence ot iron overload in central Sweden. Acta Mod Scand 213:145-150.
32. Press RD, Flora K, Gross C, Rabkin JM, Corless CL. 1998. Hepatic iron overload - direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis. Am J Clin Pathol 109:577-584.
33. Rhodes DA, Raha-Chowdury R, Cox TM, Trowsdale J. 1997. Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet 34:761-764.
34. Smillie D. 1997. A PCR-SSCP method for detecting the Cys282Tyr mutation in the HFE gene associated with haemochromatosis. J Clin Pathol Mol Pathol 50:275-276.
35. Wiggers D, Dalhøj J, Kiær H, Ring-Larson H, Hyltoft-Petersen P, Blaabjerg O, Hørder M. 1991. Screening tor haemochromatosis: prevalence among Danish blood donors. J Int Med 250:265-270.
36. Willis G, Jennings BA, Goodman E, Fellows IW, Wimperis JZ. 1997. A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in Eastern England. Blood Cells Mol Dis 23:288-291.
37. Wilson JMG, Jungner G. 1968. Principles ot screening for disease. Geneva: World Health Organization, p 26-39.
38. Worwood M, Shearman JD, Wallace DF, Dooley J, Merryweather-Clarke AT, Pointon JJ, Rosenberg WMC, Bowen DJ, Burnett AK, Jackson HA, Lawless S, Raha-Chowdhury R, Partridge J, Williams R, Bomford A, Walker AP, Robson KJH. 1997. A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 41:841-844.