Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS Study initial screening

American Journal of Hematology

Volumn 83, Issue 2, 2008, Pages 126-132

  Barton, James C ^a,b,o   Acton, Ronald T ^b,c,d   Leiendecker Foster, Catherine ^e   Lovato, Laura ^f   Adams, Paul C ^g   Eckfeldt, John H ^e   McLaren, Christine E ^h   Reiss, Jacob A ⁱ   McLaren, Gordon D ^h,j   Reboussin, David M ^f   Gordeuk, Victor R ^k,l   Speechley, Mark R ^m   Press, Richard D ⁿ   Dawkins, Fitzroy W ^k,l  

^a SOUTHERN IRON DISORDERS CENTER   (United States)

^b University of Alabama at Birmingham   (United States)

^c University of Alabama at Birmingham   (United States)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^f WAKE FOREST SCHOOL OF MEDICINE   (United States)

^g LONDON HEALTH SCIENCES CENTRE   (Canada)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ Genetics Department   (United States)

^j VA LONG BEACH HEALTHCARE SYSTEM   (United States)

^k HOWARD UNIVERSITY   (United States)

^l HOWARD UNIVERSITY   (United States)

^m UNIVERSITY OF WESTERN ONTARIO   (Canada)

ⁿ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^o NONE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; TRANSFERRIN;

ADULT; ARTHRITIS; ARTICLE; BLOOD GROUP; CLINICAL FEATURE; CLINICAL STUDY; DIABETES MELLITUS; DIAGNOSTIC ERROR; ETHNICITY; FEMALE; FERRITIN BLOOD LEVEL; FTL GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HAMP GENE; HEART FAILURE; HEMOCHROMATOSIS; HEMOCHROMATOSIS AND IRON OVERLOAD SCREENING STUDY; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HJV GENE; HOMOZYGOSITY; HUMAN; IMPOTENCE; INFERTILITY; IRON DEPLETION; IRON OVERLOAD; LIVER CANCER; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; MEDICAL INFORMATION; PARAMETER; PATIENT; PHENOTYPE; PHYSICIAN; PREVALENCE; PRIORITY JOURNAL; QUESTIONNAIRE; RACE; SCREENING TEST; SELF REPORT; SLC40A1 GENE; TFR2 GENE; TRANSFERRIN SATURATION;

ADULT; ANTIMICROBIAL CATIONIC PEPTIDES; FEMALE; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; PROMOTER REGIONS (GENETICS); RECEPTORS, TRANSFERRIN; SEQUENCE DELETION;

EID: 38349106814     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21053     Document Type: Article

References (70)

1. Lee PL, Barton JC, Rao SV, et al. Three kinships with ALAS2 P520L (c. 1559 C → T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload. Blood Cells Mol Dis 2006;36:292-297.
2. Rossi E, Wallace DF, Subramaniam VN, et al. Clinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age. Ann Clin Biochem 2006;43:233-236.
3. Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004;36:77-82.
4. Lee PL, Beutler E, Rao SV, Barton JC. Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin. Blood 2004;103:4669-4671.
5. Gehrke SG, Pietrangelo A, Kascak M, et al. HJV gene mutations in European patients with juvenile hemochromatosis. Clin Genet 2005;67:425-428.
6. Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000;25:14-15.
7. Roetto A, Totaro A, Piperno A, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001;97:2555-2560.
8. Le Gac G, Mons F Jacolot S, et al. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br J Haematol 2004;125:674-678.
9. Piperno A, Roetto A, Mariani R, et al. Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. Haematologica 2004;89:359-360.
10. Pietrangelo A, Montosi G, Totaro A, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999;341:725-732.
11. Heimpel H, Anselstetter V, Chrobak L, et al. Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term observation. Blood 2003;102:4576-4581.
12. Cunningham MJ, Macklin EA, Neufeld EJ, Cohen AR. Complications of beta-thalassemia major in North America. Blood 2004;104:34-39.
13. Jeng MR, Adams-Graves P, Howard TA, et al. Identification of hemochromatosis gene polymorphisms in chronically transfused patients with sickle cell disease. Am J Hematol 2003;74:243-248.
14. Batra AS, Acherman RJ, Wong WY, et al. Cardiac abnormalities in children with sickle cell anemia. Am J Hematol 2002;70:306-312.
15. Bronspiegel-Weintrob N, Olivieri NF, Tyler B, et al. Effect of age at the start of iron chelation therapy on gonadal function in beta-thalassemia major. N Engl J Med 1990;323:713-719.
16. Cotter PD, May A, Li L, et al. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: Increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood 1999;93:1757-1769.
17. Dolan G, Reid MM. Congenital sideroblastic anaemia in two girls. J Clin Pathol 1991;44:464-465.
18. Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995;11:444-446.
19. Lachlan KL, Temple IK, Mumford AD. Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. Eur J Hum Genet 2004;12:790-796.
20. Barton JC, Felitti VJ, Lee P, Beutler E. Characteristics of HFE C282Y homozygotes younger than age 30 years. Acta Haematol 2004;112:219-221.
21. Barton JC, Acton RT, Leiendecker-Foster C, et al. HFE C282Y homozygotes ages 25-29 years at HEIRS Study initial screening. Genet Test, in press.
22. McLaren CE, Barton JC, Adams PC, et al. Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci 2003;325:53-62.
23. Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769-1778.
24. Lee PL, Barton JC, Brandhagen D, Beutler E. Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. Br J Haematol 2004;127:224-229.
25. Lee P, Gelbart T, West C, et al. Seeking candidate mutations that affect iron homeostasis. Blood Cells Mol Dis 2002;29:471-487.
26. Beutler E, Barton JC, Felitti VJ, et al. Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells Mol Dis 2003;31:305-309.
27. Serajee FJ, Nabi R, Zhong H, Huq M. Polymorphisms in xenobiotic metabolism genes and autism. J Child Neurol 2004;19:413-417.
28. Cremonesi L, Forni GL, Soriani N, et al. Genetic and clinical heterogeneity of ferroportin disease. Br J Haematol 2005;131:663-670.
29. National Center for Biotechnology Information. Single Nucleotide Polymorphism Database (dbSNP). Bethesda, MD: National Library of Medicine; 2007.
30. Adams PC, Passmore L, Chakrabarti S, et al. Liver diseases in the hemochromatosis and iron overload screening study. Clin Gastroenterol Hepatol 2006;4:918-923.
31. Waalen J, Felitti V, Gelbart T, et al. Prevalence of hemochromatosis- related symptoms among individuals with mutations in the HFE gene. Mayo Clin Proc 2002;77:522-530.
32. McLaren GD, McLaren CE, Adams PC, et al. Symptoms and signs of hemochromatosis in HFE C282Y homozygotes identified by screening in primary care. Blood 2006;108:444a.
33. Laine F, Jouannolle AM, Morcet J, et al. Phenotypic expression in detected C282Y homozygous women depends on body mass index. J Hepatol 2005;44:433-434.
34. Assy N, Adams PC. Predictive value of family history in diagnosis of hereditary hemochromatosis. Dig Dis Sci 1997;42:1312-1315.
35. Barton JC, Acton RT, Richardson AK, Brissie RM. Stainable hepatic iron in 341 African American adults at coroner/medical examiner autopsy. BMC Clin Pathol 2005;5:2.
36. Bell H, Skinningsrud A, Raknerud N, Try K. Serum ferritin and transferrin saturation in patients with chronic alcoholic and non-alcoholic liver diseases. J Intern Med 1994;236:315-322.
37. Di Bisceglie AM, Axiotis CA, Hoofnagle JH, Bacon BR. Measurements of iron status in patients with chronic hepatitis. Gastroenterology 1992;102:2108-2113.
38. Falck-Ytter Y, Younossi ZM, Marchesini G, McCullough AJ. Clinical features and natural history of nonalcoholic steatosis syndromes. Semin Liver Dis 2001;21:17-26.
39. Gehrke SG, Stremmel W, Mathes I, et al. Hemochromatosis and transferrin receptor gene polymorphisms in chronic hepatitis C: Impact on iron status, liver injury and HCV genotype. J Mol Med 2003;81:780-787.
40. Moirand R, Lescoat G, Delamaire D, et al. Increase in glycosylated and non-glycosylated serum ferritin in chronic alcoholism and their evolution during alcohol withdrawal. Alcohol Clin Exp Res 1991;15:963-969.
41. Whitfield JB, Treloar S, Zhu G, et al. Relative importance of female-specific and non-female-specific effects on variation in iron stores between women. Br J Haematol 2003;120:860-866.
42. Rossi E, Bulsara MK, Olynyk JK, et al. Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population. Clin Chem 2001;47:202-208.
43. Whitfield JB, Cullen LM, Jazwinska EC, et al. Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am J Hum Genet 2000;66:1246-1258.
44. Fleming DJ, Jacques PF, Dallal GE, et al. Dietary determinants of iron stores in a free-living elderly population: The Framingham Heart Study. Am J Clin Nutr 1998;67:722-733.
45. Wong K, Adams PC. The diversity of liver diseases among outpatient referrals for an elevated serum ferritin. Can J Gastroenterol 2006;20:467-470.
46. Wrede CE, Buettner R, Bollheimer LC, et al. Association between serum ferritin and the insulin resistance syndrome in a representative population. Eur J Endocrinol 2006;154:333-340.
47. Acton RT, Barton JC, Passmore LV, et al. Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study. Diabetes Care 2006;29:2084-2089.
48. Acton RT, Barton JC. HFE genotype frequencies in consecutive reference laboratory specimens: Comparisons among referral sources and association with initial diagnosis. Genet Test 2001;5:299-306.
49. Barton JC, Shih WW, Sawada-Hirai R, 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;23:135-145.
50. Beutler E, Felitti V, Gelbart T, Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med 2000;133:329-337.
51. Sham RL, Ou CY, Cappuccio J, et al. Correlation between genotype and phenotype in hereditary hemochromatosis: Analysis of 61 cases. Blood Cells Mol Dis 1997;23:314-320.
52. Pietrangelo A, Caleffi A, Henrion J, et al. Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. Gastroenterology 2005;128:470-479.
53. Acton RT, Barton JC, Snively BM, et al. Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Ethn Dis 2006;16:815-821.
54. 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 Genet 2003;12:2241-2247.
55. Delatycki MB, Allen KJ, Gow P et al. A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. Clin Genet 2004;65:378-383.
56. Lanzara C, Roetto A, Daraio F et al. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 2004;103:4317-4321.
57. Roetto A, Daraio F, Porporato P, et al. Screening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation (C70R). Blood 2004;103:2407-2409.
58. Cremonesi L, Foglieni B, Fermo I, et al. Identification of two novel mutations in the 5′-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning. Haematologica 2003;88:1110-1116.
59. Barton JC, Beutler E, Gelbart T. Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome. Blood 1998;92:4480.
60. Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol Dis 1999;25:147-155.
61. Wallace DF, Dooley JS, Walker AP. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology 1999;116:1409-1412.
62. Beutler E, Griffin MJ, Gelbart T, West C. A previously undescribed nonsense mutation of the HFE gene. Clin Genet 2002;61:40-42.
63. Barton JC, West C, Lee PL, Beutler E. A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote. Clin Genet 2004;66:214-216.
64. Lee PL, Gelbart T, West C, et al. A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin. Blood Cells Mol Dis 2001;27:783-802.
65. Barton JC, Acton RT, Dawkins FW, et al. Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening (HEIRS) Study Genet Test 2005;9:231-241.
66. DelRio-LaFreniere S, Li H, Leiendecker-Foster C, et al. Multiplex analysis using denaturing high-performance liquid chromatography (dHPLC) to screen for gene variants associated with iron overload. J Mol Diagn, in press.
67. European Molecular Biology Laboratory. PolyPhen: Prediction of functional effect of human nsSNPs. Heidelberg, Germany: European Molecular Biology Laboratory; 2006.
68. SAS v. 9.0. Cary, NC: SAS Institute; 2004.
69. Box GEP, Cox DR. An analysis of transformations. J R Stat Soc B Stat Methodol 1964;26:211-252.
70. Jewell NP. Statistics for Epidemiology, 1st ed. Norwell: Chapman & Hall; 2004.