| Study Citation |
Reason for Exclusion |
|---|
| Adams PC, Agnew S. Alcoholism in hereditary hemochromatosis revisited: prevalence and clinical consequences among
homozygous siblings. Hepatology 1996;23:724-7. [PMID: 8666324] |
Case series |
| Adams PC, Kertesz AE, Valberg LS. Clinical presentation of hemochromatosis: a changing scene. Am J Med
1991;90:445-9. [PMID: 2012084] |
Case series |
| Adams PC, Kertesz AE, Valberg LS. Screening for hemochromatosis in children of homozygotes: prevalence and
cost-effectiveness. Hepatology 1995;22:1720-7. [PMID: 7489980] |
< 18 y included |
| Adams PC. Haemochromatosis: find them or forget about them? Eur J Gastroenterol Hepatol 2004;16:857-8. [PMID:
15316408] |
Editorial |
| Assy N, Adams PC. Predictive value of family history in diagnosis of hereditary hemochromatosis. Dig Dis Sci
1997;42:1312-5. [PMID: 9201100] |
No HFE testing |
| Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK. HFE genotype in patients with hemochromatosis and other liver
diseases. Ann Intern Med 1999;130:953-62. [PMID: 10383365] |
Does not meet our definition of
clinical hemochromatosis |
| 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] |
Does not include primary
results |
| 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] |
Case series |
| Bhavnani M, Lloyd D, Bhattacharyya A, Marples J, Elton P, Worwood M. Screening for genetic haemochromatosis in
blood samples with raised alanine aminotransferase. Gut 2000;46:707-10. [PMID: 10764716] |
Quality |
| Bonkovsky HL, Jawaid Q, Tortorelli K, LeClair P, Cobb J, Lambrecht RW, et al. Non-alcoholic steatohepatitis and iron:
increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J Hepatol 1999;31:421-9.
[PMID: 10488699] |
Does not meet our definition of
clinical hemochromatosis |
| Bregman H, Gelfand MC, Winchester JF, Manz HJ, Knepshield JH, Schreiner GE. iron-overload-associated myopathy in
patients on maintenance haemodialysis: a histocompatibility-linked disorder. Lancet 1980;2:882-5. [PMID:
6107546] |
Not the correct population |
| Brissot P, Moirand R, Jouanolle AM, Guyader D, Le Gall JY, Deugnier Y, et al. A genotypic study of 217 unrelated
probands diagnosed as .genetic hemochromatosis. on .classical. phenotypic criteria. J Hepatol 1999;30:588-93.
[PMID: 10207799] |
Does not report relevant
prevalence or risk measures |
| Campo S, Restuccia T, Villari D, Raffa G, Cucinotta D, Squadrito G, et al. Analysis of haemochromatosis gene
mutations in a population from the Mediterranean Basin. Liver 2001;21:233-6. [PMID: 11454185] |
Not the correct population |
| Cavanaugh JA, Wilson SR, Bassett ML. Genetic testing for HFE hemochromatosis in Australia: the value of testing
relatives of simple heterozygotes. J Gastroenterol Hepatol 2002;17:800-3. [PMID: 12121511] |
Does not include primary
results |
| Conte D, Manachino D, Colli A, Guala A, Aimo G, Andreoletti M, et al. Prevalence of genetic hemochromatosis in a
cohort of Italian patients with diabetes mellitus. Ann Intern Med 1998;128:370-3. [PMID: 9490597] |
Not the correct population |
| Dalury DF, Ewald FC, Christie MJ, Scott RD. Total knee arthroplasty in a group of patients less than 45 years of age. J
Arthroplasty 1995;10:598-602. [PMID: 9273369] |
Does not report relevant
prevalence or risk measures |
| Ellervik C, Mandrup-Poulsen T, Nordestgaard BG, Larsen LE, Appleyard M, Frandsen M, et al. Prevalence of hereditary
haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study. Lancet 2001;358:1405-9. [PMID:
11705485] |
Not the correct population |
| Feller ER, Pont A, Wands JR, Carter EA, Foster G, Kourides IA, et al. Familial hemochromatosis. Physiologic studies in
the precirrhotic stage of the disease. N Engl J Med 1977;296:1422-6. [PMID: 194151] |
Case series |
| 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] |
Does not report relevant
prevalence or risk measures |
| 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] |
Does not report relevant
prevalence or risk measures |
| Guyader D, Jacquelinet C, Moirand R, Turlin B, Mendler MH, Chaperon J, et al. Noninvasive prediction of fibrosis in
C282Y homozygous hemochromatosis. Gastroenterology 1998;115:929-36. [PMID: 9753496] |
Not the correct population |
| Hultcrantz R, Gabrielsson N. Patients with persistent elevation of aminotransferases: investigation with
ultrasonography, radionuclide imaging and liver biopsy. J Intern Med 1993;233:7-12. [PMID: 8429291] |
Not relevant outcomes |
| Jeffrey GP, Adams PC. Pitfalls in the genetic diagnosis of hereditary hemochromatosis. Genet Test 2000;4:143-6.
[PMID: 10953953] |
Editorial |
| Jordan JM. Arthritis in hemochromatosis or iron storage disease. Curr Opin Rheumatol 2004;16:62-6. [PMID:
14673391] |
Review article |
| 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] |
Does not report relevant
prevalence or risk measures |
| 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] |
Quality |
| Krawczak M, Cooper DN, Schmidtke J. Estimating the efficacy and efficiency of cascade genetic screening. Am J Hum
Genet 2001;69:361-70. [PMID: 11431707] |
Does not include primary
results |
| Li J, Zhu Y, Singal DP. HFE gene mutations in patients with rheumatoid arthritis. J Rheumatol 2000;27:2074-7.
[PMID: 10990216] |
Quality |
| Mathews JL, Williams HJ. Arthritis in hereditary hemochromatosis. Arthritis Rheum 1987;30:1137-41. [PMID:
3675659] |
Not HFE |
| 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] |
Does not report relevant
prevalence or risk measures |
| Nassar BA, Zayed EM, Title LM, O'Neill BJ, Bata IR, Kirkland SA, et al. Relation of HFE gene mutations, high iron
stores and early onset coronary artery disease. Can J Cardiol 1998;14:215-20. [PMID: 9520858] |
Quality |
| 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 |
| Olynyk J, Hall P, Ahern M, Kwiatek R, Mackinnon M. Screening for genetic haemochromatosis in a rheumatology
clinic. Aust N Z J Med 1994;24:22-5. [PMID: 8002853] |
Quality |
| 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] |
Not the correct population |
| Peterlin B, Globocnik Petrovic M, Makuc J, Hawlina M, Petrovic D. A hemochromatosis-causing mutation C282Y is a
risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. J Hum Genet 2003;48:646-9.
[PMID: 14618419] |
Not the correct population |
| Piperno A, D'Alba R, Fargion S, Roffi L, Sampietro M, Parma S, et al. Liver iron concentration in chronic viral hepatitis:
a study of 98 patients. Eur J Gastroenterol Hepatol 1995;7:1203-8. [PMID: 8789313] |
Not the correct population |
| Rasmussen ML, Folsom AR, Catellier DJ, Tsai MY, Garg U, Eckfeldt JH. A prospective study of coronary heart disease
and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study.
Atherosclerosis 2001;154:739-46. [PMID: 11257277] |
Does not report relevant
prevalence or risk measures |
| 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 meet our definition of
clinical hemochromatosis |
| Rosenqvist M, Hultcrantz R. Prevalence of a haemochromatosis among men with clinically significant
bradyarrhythmias. Eur Heart J 1989;10:473-8. [PMID: 2788086] |
No HFE testing |
| Sampietro M, Piperno A, Lupica L, Arosio C, Vergani A, Corbetta N, et al. High prevalence of the His63Asp HFE
mutation in Italian patients with porphyria cutanea tarda. Hepatology 1998;27:181-4. [PMID: 9425935] |
Does not meet our definition of
clinical hemochromatosis |
| Schmid H, Struppler C, Braun GS, Kellner W, Kellner H. Ankle and hindfoot arthropathy in hereditary
hemochromatosis. J Rheumatol 2003;30:196-9. [PMID: 12508413] |
Not the correct 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 the correct population |
| Shoaf EH Jr. Hemochromatosis discovered through blood donor screening for alanine aminotransferase. N C Med J
1990;51:443-5. [PMID: 2234109] |
Case report |
| Siezenga MA, Rasp E, Wijermans PW. Testing families with HFE-related hereditary haemochromatosis. Neth J Med
2004;62:156-9. [PMID: 15366698] |
Case report |
| Simon M, Alexandre JL, Bourel M, Le Marec B, Scordia C. Heredity of idiopathic haemochromatosis: a study of 106
families. Clin Genet 1977;11:327-41. [PMID: 862210] |
Quality |
| Tannapfel A, Stolzel U, Kostler E, Melz S, Richter M, Keim V, et al. C282Y and H63D mutation of the
hemochromatosis gene in German porphyria cutanea tarda patients. Virchows Arch 2001;439:1-5. [PMID:
11499833] |
Does not meet our definition of
clinical hemochromatosis |
| Timms AE, Sathananthan R, Bradbury L, Athanasou NA, Wordsworth BP, Brown MA. Genetic testing for
haemochromatosis in patients with chondrocalcinosis. Ann Rheum Dis 2002;61:745-7. [PMID: 12117686] |
Quality |
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