Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study

Genetic Testing

Volumn 9, Issue 3, 2005, Pages 231-241

  Barton, James C ^a   Acton, Ronald T ^b   Dawkins, Fitzroy W ^c   Adams, Paul C ^d   Lovato, Laura ^e   Leiendecker Foster, Cathie ^f   McLaren, Christine E ^g   Reboussin, David M ^e   Speechley, Mark R ^h   Gordeuk, Victor R ^c   McLaren, Gordon D ⁱ   Sholinsky, Phyliss ^j   Harris, Emily L ^k  

^a SOUTHERN IRON DISORDERS CENTER   (United States)

^b University of Alabama at Birmingham   (United States)

^c HOWARD UNIVERSITY   (United States)

^d LONDON HEALTH SCIENCES CENTRE   (Canada)

^e WAKE FOREST SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF WESTERN ONTARIO   (Canada)

ⁱ VA LONG BEACH HEALTHCARE SYSTEM   (United States)

^j NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^k Genetics Department   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CYSTEINE; HFE PROTEIN; HISTIDINE; TRANSFERRIN; TYROSINE;

ADULT; AFRICAN AMERICAN; AGED; ARTICLE; CAUCASIAN; DIAGNOSTIC VALUE; FEMALE; FERRITIN BLOOD LEVEL; GENDER; GENE; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HFE GENE; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; SERUM TRANSFERRIN SATURATION; STATISTICAL SIGNIFICANCE; TRANSFERRIN BLOOD LEVEL;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FERRITINS; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MASS SCREENING; MEMBRANE PROTEINS; PHENOTYPE; TRANSFERRIN;

EID: 27144541788     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2005.9.231     Document Type: Article

References (81)

1. Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med, 352:1769-1778, 2005.
2. Alter MJ, Kruszon-Moran D, Nainan OV, et al. The prevalence of hepatitis C virus infection in the United States, 1988 through 1994. N Engl J Med, 341:556-562, 1999.
3. Asberg A, Hveem K, Thorstensen K, et al. Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol, 36:1108-1115, 2001.
4. Baer DM, Simons JL, Staples RL, et al. Hemochromatosis screening in asymptomatic ambulatory men 30 years of age and older. Am J Med, 98:464-468, 1995.
5. Balan V, Baldus W, Fairbanks V, et al. Screening for hemochromatosis: A cost-effectiveness study based on 12,258 patients. Gastroenterology, 107:453-459, 1994.
6. Barton EH, West PA, Rivers CA, et al. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. Blood Cells Mol Dis, 27:279-284, 2001.
7. Barton JC, Acton RT. Population screening for hemochromatosis: Has the time finally come? Curr Gastroenterol Rep, 2:18-26, 2000a.
8. Barton JC, Acton RT. Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: Predictions from a model based on national, racial, and ethnic group composition in central Alabama. Genet Test, 4:199-206, 2000b.
9. Barton JC, Acton RT. Inheritance of two HFE mutations in African Americans: Cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. Genet Med, 3:294-300, 2001.
10. Barton JC, Acton RT, Richardson AK, et al. Stainable hepatic iron in 341 African American adults at coroner/medical examiner autopsy. BMC Clin Pathol, 5:2, 2005.
11. Barton JC, Acton RT, Rivers CA, et al. Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. Blood Cells Mol Dis, 31:310-319, 2003.
12. Barton JC, Bertoli LF. Transfusion iron overload in adults with acute leukemia: Manifestations and therapy. Am J Med Sci, 319:73-78, 2000.
13. Barton JC, Cheatwood SM, Key TJ, et al. Hemochromatosis detection in a health screening program at an Alabama forest products mill. J Occup Environ Med, 44:745-751, 2002.
14. Barton JC, Edwards CQ, Bertoli LF, et al. Iron overload in African Americans. Am J Med, 99:616-623, 1995.
15. Barton JC, Sawada-Hirai R, Rothenberg BE, et al. 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, 25:147-155, 1999.
16. Barton JC, Shin WW, Sawada-Hirai R, et al. Genetic and clinical description of hemochromatosis probands and hétérozygotes: Evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cells Mol Dis, 23:135-145, 1997.
17. Bell H, Skinningsrud A, Raknerud N, et al. Serum ferritin and transferrin saturation in patients with chronic alcoholic and non-alcoholic liver diseases. J Intern Med, 236:315-322, 1994.
18. Beris P, Samii K, Darbellay R, et al. Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations. Br J Haematol, 104:97-99, 1999.
19. Beutler E, Barton JC, Felitti VJ, et al. Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells Mol Dis, 31:305-309, 2003.
20. Beutler E, Felitti V, Gelbart T, et al. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med, 133:329-337, 2000.
21. Beutler E, Felitti V, Ho NJ, et al. Relationship of body iron stores to levels of serum ferritin, serum iron, unsaturated iron binding capacity and transferrin saturation in patients with iron storage disease. Acta Haematol, 107:145-149, 2002.
22. Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis, 22:187-194, 1996.
23. Bothwell TH, Charlton RW, Cook JD, et al. Plasma iron. In: Bothwell TH, Charlton RW, Cook JD, Finch CA (eds). Iron Metabolism in Man. Blackwell Scientific Publications, London, pp. 284-310, 1979.
24. Box GEP and Cox DR. An analysis of transformations. J R Stat Soc Series B (Methodological), 26:211-252, 1964.
25. Brown KE, Khan CM, Zimmerman MB, et al. Hepatic iron overload in blacks and whites: a comparative autopsy study. Am J Gastroenterol, 98:1594-1598, 2003.
26. Byrnes V, Ryan E, Barrett S, et al. Genetic hemochromatosis, a Celtic disease: Is it now time for population screening? Genet Test, 5:127-130, 2001.
27. Caetano R. Prevalence, incidence and stability of drinking problems among whites, blacks and Hispanics: 1984-1992. J Stud Alcohol, 58:565-572, 1997.
28. Caldwell SH, Harris DM, Patrie JT, et al. Is NASH underdiagnosed among African Americans? Am J Gastroenterol, 97:1496-1500, 2002.
29. Chambers JM, Cleveland WS, Kleiner B, Tukey PA. Graphical Methods for Data Analysis. Wadsworth, Belmont, 1983.
30. Cleveland WS. Robust locally weighted regression and smoothing scatterplots. J Am Stat Assoc, 74:829-836, 1979.
31. Cogswell ME, McDonnell SM, Khoury MJ, et al. Iron overload, public health, and genetics: Evaluating the evidence for hemochromatosis screening. Ann Intern Med, 129:971-979, 1998.
32. Cook JD. Hemochromatosis: effect of iron fortification of foods. In: Barton JC, Edwards CQ (eds). Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment. Cambridge University Press, Cambridge, pp. 535-543, 2000.
33. Di Bisceglie AM, Axiotis CA, Hoofnagle JH, et al. Measurements of iron status in patients with chronic hepatitis. Gastroenterology, 102:2108-2113, 1992.
34. Edwards CQ, Griffen LM, Goldgar D, et al. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med, 318:1355-1362, 1988.
35. Edwards CQ, Griffen LM, Kaplan J, et al. Twenty-four hour variation of transferrin saturation in treated and untreated haemochromatosis homozygotes. J Intern Med, 226:373-379, 1989.
36. Falck-Ytter Y, Younossi ZM, Marchesini G, et al. Clinical features and natural history of nonalcoholic steatosis syndromes. Semin Liver Dis, 21:17-26, 2001.
37. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet, 13:399-408, 1996.
38. Feitosa MF, Borecki IB, Rich SS, et al. Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study. Am J Hum Genet, 70:72-82, 2002.
39. 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, 67:722-733, 1998.
40. Fleming RE. Advances in understanding the molecular basis for the regulation of dietary iron absorption. Curr Opin Gastroenterol, 21:201-206, 2005.
41. 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, 81:780-787, 2003.
42. Gordeuk V, Mukiibi J, Hasstedt SJ, et al. Iron overload in Africa. Interaction between a gene and dietary iron content. N Engl J Med, 326:95-100, 1992.
43. Gordeuk VR, Caleffi A, Corradini E, et al. Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. Blood Cells Mol Dis, 31:299-304, 2003.
44. Gordeuk VR, McLaren CE, Looker AC, et al. Distribution of transferrin saturations in the African-American population. Blood, 91:2175-2179, 1998.
45. Green P, Eviatar JM, Sirota P, et al. Secondary hemochromatosis due to prolonged iron ingestion. Isr J Med Sci, 25:199-201, 1989.
46. Green R, Charlton RW, Seftel H, et al. Body iron excretion in man. A collaborative study. Am J Med, 45:336-353, 1968.
47. Guillygomarc'h A, Christian J, Romain M, et al. Circadian variations of transferrin saturation levels in iron-overloaded patients: Implications for the screening of C282Y-linked haemochromatosis. Br J Haematol, 120:359-363, 2003.
48. Harlow SD, Campbell B. Ethnic differences in the duration and amount of menstrual bleeding during the postmenarcheal period. Am J Epidemiol, 144:980-988, 1996.
49. Hennigar GR, Greene WB, Walker EM, et al. Hemochromatosis caused by excessive vitamin iron intake. Am J Pathol, 96:611-623, 1979.
50. Howell C, Jeffers L, Hoofnagle JH. Hepatitis C in African Americans: summary of a workshop. Gastroenterology, 119:1385-1396, 2000.
51. Ioannou GN, Dominitz JA, Weiss NS, et al. Racial differences in the relationship between hepatitis C infection and iron stores. Hepatology, 37:795-801, 2003.
52. 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, 74:243-248, 2003.
53. Koziol JA, Ho NJ, Felitti VJ, et al. Reference centiles for serum ferritin and percentage of transferrin saturation, with application to mutations of the HFE gene. Clin Chem, 47:1804-1810, 2001.
54. 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, 27:783-802, 2001.
55. Lee PL, Halloran C, West C, et al. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol Dis, 27:285-289, 2001.
56. Looker AC, Gunter EW, Johnson CL. Methods to assess iron status in various NHANES surveys. Nutr Rev, 53:246-254, 1995.
57. Looker AC, Johnson CL. Prevalence of elevated serum transferrin saturation in adults in the United States. Ann Intern Med, 129:940-945, 1998.
58. Looker AC, Sempos CT, Liu KA, et al. Within-person variance in biochemical indicators of iron status: effects on prevalence estimates. Am J Clin Nutr, 52:541-547, 1990.
59. 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, 325:53-62, 2003.
60. McLaren CE, Gordeuk VR, Looker AC, et al. Prevalence of heterozygotes for hemochromatosis in the white population of the United States. Blood, 86:2021-2027, 1995.
61. McLaren CE, Li KT, Garner CP, et al. Mixture distribution analysis of phenotypic markers reflecting HFE gene mutations. Blood, 102: 4563-4566, 2003.
62. McLaren CE, Li KT, Gordeuk VR, et al. Relationship between transferrin saturation and iron stores in the African American and US Caucasian populations: Analysis of data from the third National Health and Nutrition Examination Survey. Blood, 98:2345-2351, 2001.
63. Moirand R, Lescoat G, Delamaire D, et al. Increase in glycosylated and nonglycosylated serum ferritin in chronic alcoholism and their evolution during alcohol withdrawal. Alcohol Clin Exp Res, 15:963-969, 1991.
64. Mokdad AH, Ford ES, Bowman BA, et al. Prevalence of obesity, diabetes, and obesity-related health risk factors, 2001. JAMA, 289: 76-79, 2003.
65. Parkkila S, Niemela O, Savolainen ER, et al. HFE mutations do not account for transfusional iron overload in patients with acute myeloid leukemia. Transfusion, 41:828-831, 2001.
66. Perry GS, Byers T, Yip R, et al. Iron nutrition does not account for the hemoglobin differences between blacks and whites. J Nutr, 122: 1417-1424, 1992.
67. Phatak PD, Sham RL, Raubertas RF, et al. Prevalence of hereditary hemochromatosis in 16031 primary care patients. Ann Intern Med, 129:954-961, 1998.
68. Piperno A, Mariani R, Arosio C, et al. Haemochromatosis in patients with beta-thalassaemia trait. Br J Haematol, 111:908-914, 2000.
69. Pointon JJ, Wallace D, Merryweather-Clarke AT, et al. Uncommon mutations and polymorphisms in the hemochromatosis gene. Genet Test, 4:151-161, 2000.
70. 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, 47:202-208, 2001.
71. Schafer AI, Cheron RG, Dluhy R, et al. Clinical consequences of acquired transfusional iron overload in adults. N Engl J Med, 304: 319-324, 1981.
72. Second National Health and Nutrition Examination Survey. Assessment of the iron nutritional status of the U.S. population based on data collected in the Second National Health and Nutrition Examination Survey, 1976-1980. Pilch, S. M. and Senti, F. R. 1-C-2. 1984. Bethesda, Life Sciences Research Office, Federation of American Societies for Experimental Biology.
73. Sheth SG, Gordon FD, Chopra S. Nonalcoholic steatohepatitis. Ann Intern Med, 126:137-145, 1997.
74. Statland BE, Winkel P, Bokelund H. Variation of serum iron concentration in young healthy men: Within-day and day-to-day changes. Clin Biochem, 9:26-29, 1976.
75. Steinberg KK, Cogswell ME, Chang JC, et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA, 285:2216-2222, 2001.
76. Stinson FS, Grant BF, Dufour MC. The critical dimension of ethnicity in liver cirrhosis mortality statistics. Alcohol Clin Exp Res, 25:1181-1187, 2001.
77. Varkonyi J, Tarkovacs G, Karadi I, et al. High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: The Budapest Study on 50 patients. Acta Haematol, 109:64-67, 2003.
78. Weston SR, Leyden W, Murphy R, et al. Racial and ethnic distribution of nonalcoholic fatty liver in persons with newly diagnosed chronic liver disease. Hepatology, 41:372-379, 2005.
79. 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, 66:1246-1258, 2000.
80. Witte DL, Crosby WH, Edwards CQ, et al. Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. Clin Chim Acta, 245:139-200, 1996.
81. Wurapa RK, Gordeuk VR, Brittenham GM, et al. Primary iron overload in African Americans. Am J Med, 101:9-18, 1996.