| Study Citation |
Reason for Exclusion |
|---|
| Iron overload disorders among Hispanics—San Diego, California, 1995. MMWR Morb Mortal Wkly Rep 1996;45:991-3.
[PMID: 9005307] |
Study disease definition does
not meet our definition of
asymptomatic primary iron
overload or clinical disease |
| A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium. Gut
1997;41:841-4. [PMID: 9462220] |
Not a screening population |
| Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, et al. Hemochromatosis and iron-overload
screening in a racially diverse population. N Engl J Med 2005;352:1769-78. [PMID: 15858186] |
Does not report relevant
outcomes |
| Adams PC. Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis? Am J
Gastroenterol 2001;96:567-9. [PMID: 11232708] |
Not a screening population |
| Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms, and age in 410
patients with genetic hemochromatosis. Hepatology 1997;25:162-6. [PMID: 8985284] |
Not a screening population |
| Adams PC, Gregor JC, Kertesz AE, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis
model based on a 30-year database. Gastroenterology 1995;109:177-88. [PMID: 7797016] |
Does not contain primary data |
| Adams PC, Kertesz AE, Valberg LS. Clinical presentation of hemochromatosis: a changing scene. Am J Med 1991;90:445-9.
[PMID: 2012084] |
Not a screening population |
| Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology
1991;101:368-72. [PMID: 2065912] |
Not a screening population |
| Adams PC. Hepatic iron in hemochromatosis. Dig Dis Sci 1990;35:690-2. [PMID: 2344801] |
Includes data from patients
< 18 y |
| Ammann RW, Muller E, Bansky J, Schuler G, Hacki WH. High incidence of extrahepatic carcinomas in idiopathic
hemochromatosis. Scand J Gastroenterol 1980;15:733-6. [PMID: 6259710] |
Not a screening population |
| Asberg A, Hveem K, Kruger O, Bjerve KS. Persons with screening-detected haemochromatosis: as healthy as the general
population? Scand J Gastroenterol 2002;37:719-24. [PMID: 12126253] | Study disease definition does
not meet our definition of
asymptomatic primary iron
overload or clinical disease |
| Asberg A, Hveem K, Thorstensen K, Ellekjter E, Kannelonning K, Fjosne U, et al. Screening for hemochromatosis: high
prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36:1108-15.
[PMID: 11589387] |
Does not include C282Y
genotyping in screening
sequence |
| Askari AD, Muir WA, Rosner IA, Moskowitz RW, McLaren GD, Braun WE. Arthritis of hemochromatosis. Clinical spectrum, relation
to histocompatibility antigens, and effectiveness of early phlebotomy. Am J Med 1983;75:957-65. [PMID: 6650551] |
Not a screening population |
| Assy N, Adams PC. Predictive value of family history in diagnosis of hereditary hemochromatosis. Dig Dis Sci
1997;42:1312-5. [PMID: 9201100] |
Study design |
| Bacon BR, Sadiq SA. Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol
1997;92:784-9. [PMID: 9149185] |
Not a screening population |
| Baer DM, Simons JL, Staples RL, Rumore GJ, Morton CJ. Hemochromatosis screening in asymptomatic ambulatory men 30
years of age and older. Am J Med 1995;98:464-8. [PMID: 7733125] |
Does not include C282Y
genotyping in screening
sequence |
| Balan V, Baldus W, Fairbanks V, Michels V, Burritt M, Klee G. Screening for hemochromatosis: a cost-effectiveness study
based on 12,258 patients. Gastroenterology 1994;107:453-9. [PMID: 8039622] |
Does not include C282Y
genotyping in screening
sequence |
| Barosi G, Salvaneschi L, Grasso M, Martinetti M, Marchetti M, Bodini U, et al. High prevalence of a screening-detected,
HFE-unrelated, mild idiopathic iron overload in Northern Italy. Haematologica 2002;87:472-8. [PMID: 12010659] |
Does not report relevant
outcomes |
| Barton JC, Cheatwood SM, Key TJ, Acton RT. Hemochromatosis detection in a health screening program at an Alabama
forest products mill. J Occup Environ Med 2002;44:745-51. [PMID: 12185795] |
Does not report relevant
outcomes |
| Barton JC, Barton NH, Alford TJ. Diagnosis of hemochromatosis probands in a community hospital. Am J Med
1997;103:498-503. [PMID: 9428833] |
Not a screening population |
| Barton JC, Shih WW, Sawada-Hirai R, Acton RT, Harmon L, Rivers C, et al. Genetic and clinical description of
hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex
are responsible for hemochromatosis. Blood Cells Mol Dis 1997;23:135-45; discussion 145a-b. [PMID: 9215758]. |
Not a screening population |
| Bassett ML, Halliday JW, Ferris RA, Powell LW. Diagnosis of hemochromatosis in young subjects: predictive accuracy of
biochemical screening tests. Gastroenterology 1984;87:628-33. [PMID: 6745616] |
Participants < 18 y included |
| Bassett ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochromatosis and determination of the
critical iron level associated with fibrosis. Hepatology 1986;6:24-9. [PMID: 3943787] |
Does not report relevant
outcomes |
| Bell H, Thordal C, Raknerud N, Hansen T, Bosnes V, Halvorsen R, et al. Prevalence of hemochromatosis among first-time and
repeat blood donors in Norway. J Hepatol 1997;26:272-9. [PMID: 9059946] |
Does not include C282Y
genotyping in screening
sequence |
| Bell H, Berg JP, Undlien DE, Distante S, Raknerud N, Heier HE, et al. The clinical expression of hemochromatosis in Oslo,
Norway. Excessive oral iron intake may lead to secondary hemochromatosis even in HFE C282Y mutation negative subjects.
Scand J Gastroenterol 2000;35:1301-7. [PMID: 11199371] |
Not a screening population |
| Borwein ST, Ghent CN, Flanagan PR, Chamberlain MJ, Valberg LS. Genetic and phenotypic expression of hemochromatosis in
Canadians. Clin Invest Med 1983;6:171-9. [PMID: 6652983] |
Does not report relevant
outcomes |
| Bradbear RA, Bain C, Siskind V, Schofield FD, Webb S, Axelsen EM, et al. Cohort study of internal malignancy in genetic
hemochromatosis and other chronic nonalcoholic liver diseases. J Natl Cancer Inst 1985;75:81-4. [PMID: 2989605] |
Not a screening population |
| Bradley LA, Haddow JE, Palomaki GE. Population screening for haemochromatosis: a unifying analysis of published
intervention trials. J Med Screen 1996;3:178-84. [PMID: 9041481] |
Review article |
| Bulaj ZJ, Ajioka RS, Phillips JD, LaSalle BA, Jorde LB, Griffen LM, et al. Disease-related conditions in relatives of patients with
hemochromatosis. N Engl J Med 2000;343:1529-35. [PMID: 11087882] |
Quality |
| Buysschaert M, Paris I, Selvais P, Hermans MP. Clinical aspects of diabetes secondary to idiopathic haemochromatosis in
French-speaking Belgium. Diabetes Metab 1997;23:308-13. [PMID: 9342544] |
Case series |
| Cadet E, Capron D, Gallet M, Omanga-Leke ML, Boutignon H, Julier C, et al. Reverse cascade screening of newborns for
hereditary haemochromatosis: a model for other late onset diseases? J Med Genet 2005;42:390-5. [PMID: 15863667] |
Includes data from patients
< 18 y
Cannot separate C282Y
homozygotes from C282Y
heterozygotes |
| Cartwright GE, Edwards CQ, Kravitz K, Skolnick M, Amos DB, Johnson A, et al. Hereditary hemochromatosis. Phenotypic
expression of the disease. N Engl J Med 1979;301:175-9. [PMID: 449974] |
Does not report relevant
outcomes |
| Cecchetti G, Binda A, Piperno A, Nador F, Fargion S, Fiorelli G. Cardiac alterations in 36 consecutive patients with idiopathic
haemochromatosis: polygraphic and echocardiographic evaluation. Eur Heart J 1991;12:224-30. [PMID: 2044557] |
Not a screening population |
| Cogswell ME, Gallagher ML, Steinberg KK, Caudill PhD SP, Looker AC, Bowman BA, et al. HFE genotype and transferrin
saturation in the United States. Genet Med 2003;5:304-10. [PMID: 12865759] |
Study disease definition does
not meet our definition of
asymptomatic primary iron
overload or clinical disease |
| Crawford DH, Jazwinska EC, Cullen LM, Powell LW. Expression of HLA-linked hemochromatosis in subjects homozygous or
heterozygous for the C282Y mutation. Gastroenterology 1998;114:1003-8. [PMID: 9558290] |
Not a screening population |
| Cundy T, Bomford A, Butler J, Wheeler M, Williams R. Hypogonadism and sexual dysfunction in hemochromatosis: the
effects of cirrhosis and diabetes. J Clin Endocrinol Metab 1989;69:110-6. [PMID: 2732293] |
Not a screening population |
| Deugnier YM, Charalambous P, Le Quilleuc D, Turlin B, Searle J, Brissot P, et al. Preneoplastic significance of hepatic iron-free
foci in genetic hemochromatosis: a study of 185 patients. Hepatology 1993;18:1363-9. [PMID: 7902316] |
Not a screening population |
| Distante S, Berg JP, Lande K, Haug E, Bell H. HFE gene mutation (C282Y) and phenotypic expression among a hospitalised
population in a high prevalence area of haemochromatosis. Gut 2000;47:575-9. [PMID: 10986220] |
Inconsistent application of
exclusion criteria |
| Edwards CQ, Griffen LM, Kushner JP. The morbidity of hemochromatosis among clinically unselected homozygotes:
preliminary report. Adv Exp Med Biol 1994;356:303-8. [PMID: 7887235] |
Does not report relevant
outcomes |
| Edwards CQ, Griffen LM, Kushner JP. Comparison of stainable liver iron between symptomatic and asymptomatic
hemochromatosis homozygotes and their homozygous relatives. Am J Med Sci 1991;301:44-6. [PMID: 1994729] |
Not a screening population |
| Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among
11,065 presumably healthy blood donors. N Engl J Med 1988;318:1355-62. [PMID: 3367936] |
Does not include C282Y
genotyping in screening
sequence |
| Edwards CQ, Cartwright GE, Skolnick MH, Amos DB. Homozygosity for hemochromatosis: clinical manifestations. Ann Intern
Med 1980;93:519-25. [PMID: 7436183] |
Does not report relevant
outcomes |
| Elliott R, Lin BP, Dent OF, Tait A, Smith CI. Prevalence of hemochromatosis in a random sample of asymptomatic men. Aust
N Z J Med 1986;16:491-5. [PMID: 3467692] |
Does not include C282Y
genotyping in screening
sequence |
| Elmberg M, Hultcrantz R, Ekbom A, Brandt L, Olsson S, Olsson R, et al. Cancer risk in patients with hereditary
hemochromatosis and in their first-degree relatives. Gastroenterology 2003;125:1733-41. [PMID: 14724826] |
Not a screened population |
| Fargion S, Fracanzani AL, Piperno A, Braga M, D'Alba R, Ronchi G, et al. Prognostic factors for hepatocellular carcinoma in
genetic hemochromatosis. Hepatology 1994;20:1426-31. [PMID: 7982640] |
Not a screening population |
| Fargion S, Mandelli C, Piperno A, Cesana B, Fracanzani AL, Fraquelli M, et al. Survival and prognostic factors in 212 Italian
patients with genetic hemochromatosis. Hepatology 1992;15:655-9. [PMID: 1312985] |
Not a screening population |
| Fiel MI, Schiano TD, Bodenheimer HC, Thung SN, King TW, Varma CR, et al. Hereditary hemochromatosis in liver
transplantation. Liver Transpl Surg 1999;5:50-6. [PMID: 9873093] |
Not a screening population |
| Fleming DJ, Jacques PF, Tucker KL, Massaro JM, D'Agostino RB Sr, Wilson PW, et al. Iron status of the free-living, elderly
Framingham Heart Study cohort: an iron-replete population with a high prevalence of elevated iron stores. Am J Clin Nutr
2001;73:638-46. [PMID: 11237943] |
Does not report relevant
outcomes |
| Fletcher LM, Dixon JL, Purdie DM, Powell LW, Crawford DH. Excess alcohol greatly increases the prevalence of cirrhosis in
hereditary hemochromatosis. Gastroenterology 2002;122:281-9. [PMID: 11832443] |
Not a screening population |
| Fox CJ, Cullen DJ, Knuiman MW, Cumpston GN, Divitini ML, Rossi E, et al. Effects of body iron stores and
haemochromatosis genotypes on coronary heart disease outcomes in the Busselton health study. J Cardiovasc Risk
2002;9:287-93. [PMID: 12394323] |
Study disease definition does
not meet our definition of
asymptomatic primary iron
overload or clinical disease |
| Fracanzani AL, Conte D, Fraquelli M, Taioli E, Mattioli M, Losco A, et al. Increased cancer risk in a cohort of 230 patients
with hereditary hemochromatosis in comparison to matched control patients with non-iron-related chronic liver disease.
Hepatology 2001;33:647-51. [PMID: 11230745] |
Not a screening population |
| Fracanzani AL, Fargion S, Romano R, Conte D, Piperno A, D'Alba R, et al. Portal hypertension and iron depletion in patients
with genetic hemochromatosis. Hepatology 1995;22:1127-31. [PMID: 7557861] |
Not a screening population |
| Gleeson F, Ryan E, Barrett S, Crowe J. Clinical expression of haemochromatosis in Irish C282Y homozygotes identified
through family screening. Eur J Gastroenterol Hepatol 2004;16:859-63. [PMID: 15316409] |
Includes data from patients
< 18 y |
| Hallberg L, Bjorn-Rasmussen E, Jungner I. Prevalence of hereditary haemochromatosis in two Swedish urban areas. J Intern
Med 1989;225:249-55. [PMID: 2723582]. |
Does not include C282Y
genotyping in screening
sequence |
| Halliday JW, Russo AM, Cowlishaw JL, Powell LW. Serum-ferritin in diagnosis of haemochromatosis. A study of 43 families.
Lancet 1977;2:621-4. [PMID: 71445] |
Does not report relevant
outcomes |
| Hamilton EB, Bomford AB, Laws JW, Williams R. The natural history of arthritis in idiopathic haemochromatosis: progression
of the clinical and radiological features over ten years. Q J Med 1981;50:321-9. [PMID: 7330169] |
Not a screening population |
| Jackson HA, Carter K, Darke C, Guttridge MG, Ravine D, Hutton RD, et al. HFE mutations, iron deficiency and overload in
10,500 blood donors. Br J Haematol 2001;114:474-84. [PMID: 11529872] |
Study disease definition does
not meet our definition of
asymptomatic primary iron
overload or clinical disease |
| Jiang R, Manson JE, Meigs JB, Ma J, Rifai N, Hu FB. Body iron stores in relation to risk of type 2 diabetes in apparently
healthy women. JAMA 2004;291:711-7. [PMID: 14871914] |
Study design |
| Jonsson JJ, Johannesson GM, Sigfusson N, Magnusson B, Thjodleifsson B, Magnusson S. Prevalence of iron deficiency and
iron overload in the adult Icelandic population. J Clin Epidemiol 1991;44:1289-97. [PMID: 1753260] |
Does not include C282Y
genotyping in screening
sequence |
| Jorquera F, Dominguez A, Diaz-Golpe V, Espinel J, Munoz F, Herrera A, et al. C282Y and H63D mutations of the
haemochromatosis gene in patients with iron overload. Rev Esp Enferm Dig 2001;93:293-302. [PMID: 11488107] |
Not a screening population |
| Karlsson M, Ikkala E, Reunanen A, Takkunen H, Vuori E, Makinen J. Prevalence of hemochromatosis in Finland. Acta Med
Scand 1988;224:385-90. [PMID: 3188989] |
Does not include C282Y
genotyping in screening
sequence |
| Koefoed P, Dalhoff K, Dissing J, Kramer I, Milman N, Pedersen P, et al. HFE mutations and hemochromatosis in Danish
patients admitted for HFE genotyping. Scand J Clin Lab Invest 2002;62:527-35. [PMID: 12512743] |
Not a screening population |
| Lalouel JM, Le Mignon L, Simon M, Fauchet R, Bourel M, Rao DC, et al. Genetic analysis of idiopathic hemochromatosis
using both qualitative (disease status) and quantitative (serum iron) information. Am J Hum Genet 1985;37:700-18.
[PMID: 9556659] |
Does not report relevant
outcomes |
| Leggett BA, Halliday JW, Brown NN, Bryant S, Powell LW. Prevalence of haemochromatosis amongst asymptomatic
Australians. Br J Haematol 1990;74:525-30. [PMID: 2346731] |
Does not include C282Y
genotyping in screening
sequence |
| Lin E, Adams PC. Biochemical liver profile in hemochromatosis. A survey of 100 patients. J Clin Gastroenterol
1991;13:316-20. [PMID: 2066547] |
Not a screening population |
| Lindmark B, Eriksson S. Regional differences in the idiopathic hemochromatosis gene frequency in Sweden. Acta Med Scand
1985;218:299-304. [PMID: 4072776] |
Does not include C282Y
genotyping in screening
sequence |
| Livesey KJ, Wimhurst VL, Carter K, Worwood M, Cadet E, Rochette J, et al. The 16189 variant of mitochondrial DNA occurs
more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. J Med Genet
2004;41:6-10. [PMID: 14729817] |
Not a screening population |
| Mainous AG 3rd, Gill JM, Pearson WS. Should we screen for hemochromatosis? An examination of evidence of downstream
effects on morbidity and mortality. Arch Intern Med 2002;162:1769-74. [PMID: 12153381] |
Does not report relevant
outcomes |
| Mainous AG 3rd, King DE, Pearson WS, Garr DR. Is an elevated serum transferrin saturation associated with the development
of diabetes? J Fam Pract 2002;51:933-6. [PMID: 12485546] |
Does not include C282Y
genotyping in screening
sequence |
| Mainous AG 3rd, Wells B, Carek PJ, Gill JM, Geesey ME. The mortality risk of elevated serum transferrin saturation and
consumption of dietary iron. Ann Fam Med 2004;2:139-44. [PMID: 15083854] |
Does not include C282Y
genotyping in screening
sequence |
| Mainous AG 3rd, Gill JM, Carek PJ. Elevated serum transferrin saturation and mortality. Ann Fam Med 2004;2:133-8. [PMID:
15083853] |
Does not include C282Y
genotyping in screening
sequence |
| Mainous AG 3rd, Gill JM, Everett CJ. Transferrin saturation, dietary iron intake, and risk of cancer. Ann Fam Med
2005;3:131-7. [PMID: 15798039] |
Does not report relevant
outcomes |
| Mathews JL, Williams HJ. Arthritis in hereditary hemochromatosis. Arthritis Rheum 1987;30:1137-41. [PMID: 3675659] |
Ineligible study design |
| McCune CA, Al-Jader LN, May A, Hayes SL, Jackson HA, Worwood M. Hereditary haemochromatosis: only 1% of adult
HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. Hum Genet 2002;111:538-43. [PMID:
12436244] |
Not a screening population |
| McCune CA, Ravine D, Worwood M, Jackson HA, Evans HM, Hutton D. Screening for hereditary haemochromatosis within
families and beyond. Lancet 2003;362:1897-8. [PMID: 14667749] |
Not a screening population
Quality |
| Merryweather-Clarke AT, Worwood M, Parkinson L, Mattock C, Pointon JJ, Shearman JD, et al. The effect of HFE mutations
on serum ferritin and transferrin saturation in the Jersey population. Br J Haematol 1998;101:369-73. [PMID: 9609537] |
Does not report relevant
outcomes |
| Milman N, Pedersen P, Steig T, Byg KE, Graudal N, Fenger K. Clinically overt hereditary hemochromatosis in Denmark
1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Ann Hematol
2001;80:737-44. [PMID: 11797115] |
Quality |
| Milman N. Iron status markers in hereditary haemochromatosis: distinction between individuals being homozygous and
heterozygous for the haemochromatosis allele. Eur J Haematol 1991;47:292-8. [PMID: 1954989] |
Does not report relevant
outcomes |
| Moirand R, Jouanolle AM, Brissot P, Le Gall JY, David V, Deugnier Y. Phenotypic expression of HFE mutations: a French
study of 1110 unrelated iron-overloaded patients and relatives. Gastroenterology 1999;116:372-7. [PMID: 9922318] |
Does not report relevant
outcomes |
| Moodie SJ, Ang L, Stenner JM, Finlayson C, Khotari A, Levin GE, et al. Testing for haemochromatosis in a liver clinic
population: relationship between ethnic origin, HFE gene mutations, liver histology and serum iron markers. Eur J
Gastroenterol Hepatol 2002;14:223-9. [PMID: 11953685] |
Not a screening population |
| Morrison ED, Brandhagen DJ, Phatak PD, Barton JC, Krawitt EL, El-Serag HB, et al. Serum ferritin level predicts advanced
hepatic fibrosis among U.S. patients with phenotypic hemochromatosis. Ann Intern Med 2003;138:627-33. [PMID:
12693884] |
Not a screening population |
| Mura C, Nousbaum JB, Verger P, Moalic MT, Raguenes O, Mercier AY, et al. Phenotype-genotype correlation in
haemochromatosis subjects. Hum Genet 1997;101:271-6. [PMID: 9439654] |
Not a screening population |
| Nash S, Marconi S, Sikorska K, Naeem R, Nash G. Role of liver biopsy in the diagnosis of hepatic iron overload in the era of
genetic testing. Am J Clin Pathol 2002;118:73-81. [PMID: 12109859] |
Not a screening population |
| Nelson RL, Persky V, Davis F, Becker E. Risk of disease in siblings of patients with hereditary hemochromatosis. Digestion
2001;64:120-4. [PMID: 11684826] |
Quality |
| Niederau C, Niederau CM, Lange S, Littauer A, Abdel-Jalil N, Maurer M, et al. Screening for hemochromatosis and iron
deficiency in employees and primary care patients in Western Germany. Ann Intern Med 1998;128:337-45. [PMID:
9490593] |
Does not include C282Y
genotyping in screening
sequence |
| Olsson KS, Eriksson K, Ritter B, Heedman PA. Screening for iron overload using transferrin saturation. Acta Med Scand
1984;215:105-12. [PMID: 6702489] |
Does not include C282Y
genotyping in screening
sequence |
| Olsson KS, Ritter B, Lundin PM. Liver affection in iron overload studied with serum ferritin and serum aminotransferases. Acta
Med Scand 1985;217:79-84. [PMID: 3976436] |
Not a screening population |
| Olynyk JK, Luxon BA, Britton RS, Bacon BR. Hepatic iron concentration in hereditary hemochromatosis does not saturate or
accurately predict phlebotomy requirements. Am J Gastroenterol 1998;93:346-50. [PMID: 9517637] |
Does not report relevant
outcomes |
| Panajotopoulos N, Piperno A, Conte D, Mandelli C, Cesana M, Mercuriali F, et al. HLA typing in 67 Italian patients with
idiopathic hemochromatosis and their relatives. Tissue Antigens 1989;33:431-6. [PMID: 2734773] |
Study design |
| Phatak PD, Sham RL, Raubertas RF, Dunnigan K, O'Leary MT, Braggins C, et al. Prevalence of hereditary hemochromatosis in
16031 primary care patients. Ann Intern Med 1998;129:954-61. [PMID: 9867748] |
Does not include C282Y
genotyping in screening
sequence |
| Piperno A, Vergani A, Salvioni A, Trombini P, Vigana M, Riva A, et al. Effects of venesections and restricted diet in patients
with the insulin-resistance hepatic iron overload syndrome. Liver Int 2004;24:471-6. [PMID: 15482345] |
Not a screening population |
| Porto G, Vicente C, Fraga J, da Silva BM, de Sousa M. Importance of establishing appropriate local reference values for the
screening of hemochromatosis: a study of three different control populations and 136 hemochromatosis family members.
Hemochromatosis Clinical and Research Group. J Lab Clin Med 1992;119:295-305. [PMID: 1541878] |
Includes data from patients
< 18 y |
| Porto G, Vicente C, Teixeira MA, Martins O, Cabeda JM, Lacerda R, et al. Relative impact of HLA phenotype and CD4-CD8
ratios on the clinical expression of hemochromatosis. Hepatology 1997;25:397-402. [PMID: 9021953] |
Not a screening population |
| Poullis A, Moodie SJ, Ang L, Finlayson CJ, Levin GE, Maxwell JD. Routine transferrin saturation measurement in liver clinic
patients increases detection of hereditary haemochromatosis. Ann Clin Biochem 2003;40:521-7. [PMID: 14503989] |
Not a screening population |
| Powell LW, Summers KM, Board PG, Axelsen E, Webb S, Halliday JW. Expression of hemochromatosis in homozygous
subjects. Implications for early diagnosis and prevention. Gastroenterology 1990;98:1625-32. [PMID: 2338199] |
Includes data from patients
< 18 y |
| Poynard T, Mathurin P, Lai CL, Guyader D, Poupon R, Tainturier MH, et al. A comparison of fibrosis progression in chronic
liver diseases. J Hepatol 2003;38:257-65. [PMID: 12586290] |
Not a screening population |
| Press RD, Flora K, Gross C, Rabkin JM, Corless CL. Hepatic iron overload: direct HFE (HLA-H) mutation analysis vs
quantitative iron assays for the diagnosis of hereditary hemochromatosis. Am J Clin Pathol 1998;109:577-84. [PMID:
9576576] |
Not a screening population |
| Rhodes DA, Raha-Chowdhury R, Cox TM, Trowsdale J. Homozygosity for the predominant Cys282Tyr mutation and absence
of disease expression in hereditary haemochromatosis. J Med Genet 1997;34:761-4. [PMID: 9321765] |
Does not report relevant
outcomes |
| Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr
mutation in sporadic porphyria cutanea tarda. Lancet 1997;349:321-3. [PMID: 9024376] |
Does not report relevant
outcomes |
| Rossi E, Henderson S, Chin CY, Olynyk J, Beilby JP, Reed WD, et al. Genotyping as a diagnostic aid in genetic
haemochromatosis. J Gastroenterol Hepatol 1999;14:427-30. [PMID: 10355506] |
Not a screening population |
| Rowe JW, Wands JR, Mezey E, Waterbury LA, Wright JR, Tobin J, et al. Familial hemochromatosis: characteristics of the
precirrhotic stage in a large kindred. Medicine (Baltimore). 1977;56:197-211. [PMID: 870791] |
Does not report relevant
outcomes |
| Ryan E, Byrnes V, Coughlan B, Flanagan AM, Barrett S, O'Keane JC, et al. Underdiagnosis of hereditary haemochromatosis:
lack of presentation or penetration? Gut 2002;51:108-12. [PMID: 12077102] |
Includes data from patients
< 18 y |
| Salonen JT, Tuomainen TP, Kontula K. Role of C282Y mutation in haemochromatosis gene in development of type 2 diabetes
in healthy men: prospective cohort study. BMJ 2000;320:1706-7. [PMID: 10864547] |
Does not report relevant
outcomes |
| Scotet V, Merour MC, Mercier AY, Chanu B, Le Faou T, Raguenes O, et al. Hereditary hemochromatosis: effect of excessive
alcohol consumption on disease expression in patients homozygous for the C282Y mutation. Am J Epidemiol
2003;158:129-34. [PMID: 12851225] |
Does not report relevant
outcomes |
| 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 1997;23:314-20. [PMID: 9410475] |
Not a screening population |
| Sham RL, Raubertas RF, Braggins C, Cappuccio J, Gallagher M, Phatak PD. Asymptomatic hemochromatosis subjects:
genotypic and phenotypic profiles. Blood 2000;96:3707-11. [PMID: 11090050] |
Not a screening population |
| Smith BN, Kantrowitz W, Grace ND, Greenberg MS, Patton TJ, Ookubo R, et al. Prevalence of hereditary hemochromatosis in
a Massachusetts corporation: is Celtic origin a risk factor? Hepatology 1997;25:1439-46. [PMID: 9185765] |
Does not include C282Y
genotyping in screening
sequence |
| Waalen J, Nordestgaard BG, Beutler E. The penetrance of hereditary hemochromatosis. Best Pract Res Clin Haematol
2005;18:203-20. [PMID: 15737885] |
Review article |
| Wands JR, Rowe JA, Mezey SE, Waterbury LA, Wright JR, Halliday JW, et al. Normal serum ferritin concentrations in
precirrhotic hemochromatosis. N Engl J Med 1976;294:302-5. [PMID: 1246269] |
Does not report relevant
outcomes |
| Wiggers P, Dalhoj J, Kiaer H, Ring-Larsen H, Petersen PH, Blaabjerg O, et al. Screening for haemochromatosis: prevalence
among Danish blood donors. J Intern Med 1991;230:265-70. [PMID: 1895049] |
Does not include C282Y
genotyping in screening
sequence |
| Willis G, Jennings BA, Goodman E, Fellows IW, Wimperis JZ. A high prevalence of HLA-H 845A mutations in
hemochromatosis patients and the normal population in eastern England. Blood Cells Mol Dis 1997;23:288-91. [PMID:
9410472] |
Does not report relevant
outcomes |
| Willis G, Wimperis JZ, Lonsdale R, Fellows IW, Watson MA, Skipper LM, et al. Incidence of liver disease in people with HFE
mutations. Gut 2000;46:401-4. [PMID: 10673304] |
Does not report relevant
outcomes |
| Willis G, Wimperis JZ, Smith K, Fellows IW, Jennings BA. HFE mutations in the elderly. Blood Cells Mol Dis 2003;31:240-6.
[PMID: 12972032] |
Study disease definition does
not meet our definition of
asymptomatic primary iron
overload or clinical disease |
| Wojcik JP, Speechley MR, Kertesz AE, Chakrabarti S, Adams PC. Natural history of C282Y homozygotes for
hemochromatosis. Can J Gastroenterol 2002;16:297-302. [PMID: 12045778] |
Not a screening population
Includes data from patients
< 18 y |
| Yamashita C, Adams PC. Natural history of the C282Y homozygote for the hemochromatosis gene (HFE) with a normal
serum ferritin level. Clin Gastroenterol Hepatol 2003;1:388-91. [PMID: 15017658] |
Not a screening population |
540 Gaither Road Rockville, MD 20850