Haemochromatosis: Where are all the Patients?

Merrywather-Clarke At , Pointon JJ , Shearmen JD Robson M. Global prevalence of putative hemochromatotic mutations. J Med Genetics 1997; 34: 275–278.

Lucotte G. Celtic origin of the C282y mutation of haemochromatosis. Blood Cell Mol Dis 1998; 24: 433–438.

Olynk JK , Cullen DJ , Aquila S , Rossi E , Summerville L , Powell LW . A population based study of the clinical expression of the haemochromatosis gene. N Eng J Med 1999; 341: 718–724.

Legget RA , Halliday JW , Brown NN , Bryant S , Powell LW . Prevalence of haemochromatosis amongst asymptomatic Australians. Br J Haematol 1990: 74: 525–530.

Edwards CQ , Griffen LM , Goldgar D , Drummond C , Skolnock MH . Prevalence of haemachromatosis amongst 11 065 presumably healthy blood donors. N Eng J Med 1988; 318; 1355–62.

Wiggers P , Dalho JJ , Kiaer H , et. al. Screening for haemachromatosis: prevalence amongst Danish blood donors. J Intern Med 1991: 230; 265–70.

Tanner AR , Desai S , Lu W , Wright R. Screening for haemachromatosis. Gut 1985: 26: 1139–40.

UK Haemochromatosis Consortium. A Simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 1997; 41: 841–844.

Jackson HA , Carter K , Guttridge MG , Darke C , Napier JA , Ravine D and Worwood M. Haemochromatosis HFE mutations and iron status in 10 000 blood donors from South Wales. Br J Haematol 2000; 108 (51): 47(abstract)

Clarke AT Merryweather , Simonsen H , Shearmen Jl , Pointon JJ , Vedersen Nooregaard , Robson M. A retrospective anonymous pilot screening of newborns for HFE mutations in Scandinavian population. Human Mutat 1999: 13 (2): 154–9.

Lucotte G. Celtic origin of the C282Y mutation of haemochromatosis. Blood Cell Mol Dis 1998: 24 (4): 433–8.

Ryan E , 0 Keane C , Come J. Haemochromatosis in Ireland and HFE. Blood Cell Mol Dis 1998: 24 (4): 428–32.

Mercier G , Bathelier C , Lucotte G. Frqueny of C282Y mutation of haemochromatosis in 5 French population. Blood Cell Mol Dis 1998: 24 (2): 165–6.

Jounatte AM , Fergelott P , Rouat ML , Gendon G , Roussey M , Dergeniey Y , Feingolid J , Le Gall JY , David V. Prevalence of C282Y mutation in Britanny: Penetrance of haemochromatosis. Am Genet 1998 41 (4): 195–8.

Finch SC , Finch CA . Idiopathic haemochromatosis, an iron storage disease. Medicine (Baltimore) 1955: 34: 381–430

MacSween RM , Scott AR. , Hepatic cirrhosis: a clinico-pathological review of 520 cases. J Clin Path 1973: 26: 936–42

MacDonald RA . Haemochromatosis and cirrhosis in different geographical areas. Am J Med Sci 1965: 249: 36–46.

Powell LW , Summers KM , Board PG , et. al. Expression of haemochromatosis in homozygous subj ects. Implications for early diagnosis and prevention. Gastroenterology 1990: 98: 1625–32.

Kushner JP . Screening for haemochromatosis. Gastroenterology 1995: 109; 315–6.

Adams PC , Gregor JC , Kertesz AE , Valberg LS . Screening blood donors for hereditary haemochromatosis: a decision analysis model based on a 30-year database. Gastroenterology 1995; 109: 177–88.

Barton JC , Bertoli LF . Hemochromatosis: the genetic disorder of the twentyfirst century. Nat Med 1996; 2: 394–5.

Niederau C , Fischer R , Purscel A , Stremmel W , Haussinger D , Strohmeyer G. Long term survival in patients with hereditary hemochromatosis. Gastroenterology 1996; 110: 1107–1119.

Borwein S , Ghent CN , Valberg LS . Diagnostic efficacy of screening test for haemochromatosis. Cen Med Assoc 19: 84; 131: 895–90 1.

Basset ML , Halliday JW , Ferris RA , Powell LW . Diagnosis of haemochromatosis in young subjects: Predictive accuracy of biochemical screening tests. Gastroenterology 1984; 87: 628–633.

Phatak PD , Guzinan G , Woll JE Cost-effectiveness of screening for hereditary haemochromatosis. Arch Intern Med 1994; 154 (7): 769–776.

Barash CI . Genetic discrimination and screening for haemochromatosis. Then and now. Genetic Testing 2000: 4 (2): 213–18

Worwood M. What is the role of genetic testing in diagnosis of haemochromatosis? Ann Clin Biochem 2001; 38: 3A9.

EASI, International Consensus Conference on Haemochromatosis. J Hepatol 2000; 33: 485–504.

Tavil AS . Diagnosis and management of hemochromatosis. Hepatology 2001; 33: 1321–27.

Bhavrtani M , Lloyd D , Bhattacharya A Screening for genetic haemochromatosis in blood samples with raised alanine aminotransferase. Gut 2000; 46 (5): 707–7 10.

George DK , Evans RM , Crofton RW , Gunn IR . Testing for haemochromatosis in a diabetic clinic. Ann Clin Biochem 1995: 32: 521–6.

Phelps G , Chapman I , Hall P , Braund W , MacKinnon M. Prevalence of haemochromatosis among diabetic patients. Lancet 1989; 2: 233–4.

O'Brien Barret B , Murray DM , Dinneen S , O'Sullivan DJ . Usefulness of biochemical screening of diabetic patients for haemochromatosis. Diabetes Care 1990: 1991: 14: 929–30.

Crink E , Tamas G. Screening for idiopathic haemochromatosis amonst patients with diabetes mellitus. Diabetic Care 1991: 12; 929–3037.

Singh BM , Grinnewald RA , Press M , Muller BR , Wise PH . Prevalence of haemochromatosis amongst patients with diabetes mellitus. Diab Med 1992: 9; 730–1.

Olynk J , Kwiatek R , Hall P , MacKinnon M , Ahern M. Screening for genetic haemochromatosis in a rheumatology clinic. Aust NZ J Med 1994: 24: 22–25.