Ronald T Acton

Summary

Affiliation: University of Alabama at Birmingham
Country: USA

Publications

  1. ncbi request reprint Genotypic and phenotypic heterogeneity of African Americans with primary iron overload
    James C Barton
    Southern Iron Disorders Center, G 105, 20220 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 31:310-9. 2003
  2. ncbi request reprint Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study
    Ronald T Acton
    Department of Microbiology, University of Alabama at Birmingham, 1530 3rd Ave South, Birmingham, AL 35294 0005, USA
    Diabetes Care 29:2084-9. 2006
  3. ncbi request reprint DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans
    R T Acton
    Department of Microbiology, University of Alabama, Birmingham, AL 35294 0005, USA
    Clin Genet 72:448-53. 2007
  4. pmc Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study
    Ronald T Acton
    Department of Microbiology, University of Alabama at Birmingham, Birmingham, Alabama 35209 0005, USA
    Clin Gastroenterol Hepatol 6:934-8. 2008
  5. ncbi request reprint HFE genotype frequencies in consecutive reference laboratory specimens: comparisons among referral sources and association with initial diagnosis
    R T Acton
    Immunogenetics Program, Department of Microbiology, University of Alabama at Birmingham, AL 35294, USA
    Genet Test 5:299-306. 2001
  6. ncbi request reprint HFE mutations in African-American women with non-insulin-dependent diabetes mellitus
    R T Acton
    Department of Microbiology, University of Alabama at Birmingham, USA
    Ethn Dis 11:578-84. 2001
  7. pmc Ancestry reported by white adults with cutaneous melanoma and control subjects in central Alabama
    Ronald T Acton
    Immunogenetics Program and Departments of Microbiology, University of Alabama at Birmingham, Alabama, USA
    BMC Cancer 4:47. 2004
  8. ncbi request reprint Genetics and cardiovascular disease
    Ronald T Acton
    Department of Microbiology, Immunogenetics Program, University of Alabama at Birmingham, Alabama 35294 0005, USA
    Ethn Dis 14:S2-8-16. 2004
  9. ncbi request reprint A genome-wide linkage scan for iron phenotype quantitative trait loci: the HEIRS Family Study
    R T Acton
    Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35209 0005, USA
    Clin Genet 71:518-29. 2007
  10. doi request reprint Tumor necrosis factor-alpha promoter variants and iron phenotypes in 785 hemochromatosis and iron overload screening (HEIRS) study participants
    Ronald T Acton
    Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL, USA
    Blood Cells Mol Dis 44:252-6. 2010

Detail Information

Publications74

  1. ncbi request reprint Genotypic and phenotypic heterogeneity of African Americans with primary iron overload
    James C Barton
    Southern Iron Disorders Center, G 105, 20220 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 31:310-9. 2003
    ..HFE C282Y, ferroportin 744 G-->T, and common forms of heritable anemia appear to account for increased iron absorption or retention in some patients...
  2. ncbi request reprint Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study
    Ronald T Acton
    Department of Microbiology, University of Alabama at Birmingham, 1530 3rd Ave South, Birmingham, AL 35294 0005, USA
    Diabetes Care 29:2084-9. 2006
    ....
  3. ncbi request reprint DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans
    R T Acton
    Department of Microbiology, University of Alabama, Birmingham, AL 35294 0005, USA
    Clin Genet 72:448-53. 2007
    ..These data suggest that the risk for DM1 in AAs is intermediate between that of African blacks and whites of European descent...
  4. pmc Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study
    Ronald T Acton
    Department of Microbiology, University of Alabama at Birmingham, Birmingham, Alabama 35209 0005, USA
    Clin Gastroenterol Hepatol 6:934-8. 2008
    ..Background &..
  5. ncbi request reprint HFE genotype frequencies in consecutive reference laboratory specimens: comparisons among referral sources and association with initial diagnosis
    R T Acton
    Immunogenetics Program, Department of Microbiology, University of Alabama at Birmingham, AL 35294, USA
    Genet Test 5:299-306. 2001
    ....
  6. ncbi request reprint HFE mutations in African-American women with non-insulin-dependent diabetes mellitus
    R T Acton
    Department of Microbiology, University of Alabama at Birmingham, USA
    Ethn Dis 11:578-84. 2001
    ....
  7. pmc Ancestry reported by white adults with cutaneous melanoma and control subjects in central Alabama
    Ronald T Acton
    Immunogenetics Program and Departments of Microbiology, University of Alabama at Birmingham, Alabama, USA
    BMC Cancer 4:47. 2004
    ..We sought to evaluate the hypothesis that the high incidence of cutaneous melanoma in white persons in central Alabama is associated with a predominance of Irish and Scots descent...
  8. ncbi request reprint Genetics and cardiovascular disease
    Ronald T Acton
    Department of Microbiology, Immunogenetics Program, University of Alabama at Birmingham, Alabama 35294 0005, USA
    Ethn Dis 14:S2-8-16. 2004
    ....
  9. ncbi request reprint A genome-wide linkage scan for iron phenotype quantitative trait loci: the HEIRS Family Study
    R T Acton
    Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35209 0005, USA
    Clin Genet 71:518-29. 2007
    ..12, p = 0.002) and to chromosome 17q (LOD = 2.19, p = 0.002). We conclude that these regions should be considered for fine mapping studies to identify QTL that contribute to variation in SF and UIBC...
  10. doi request reprint Tumor necrosis factor-alpha promoter variants and iron phenotypes in 785 hemochromatosis and iron overload screening (HEIRS) study participants
    Ronald T Acton
    Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL, USA
    Blood Cells Mol Dis 44:252-6. 2010
    ..We cannot exclude a possible association of homozygosity for TNF promoter variants on TS and SF values...
  11. ncbi request reprint Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
    Ronald T Acton
    Department of Microbiology, University of Alabama at Birmingham 35209 0005, USA
    Ethn Dis 16:815-21. 2006
    ..To assess geographic differences in the frequencies of HFE C282Y and H63D genotypes in six racial/ethnic groups recruited in the Hemochromatosis and Iron Overload Screening (HEIRS) Study...
  12. ncbi request reprint HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Genet Test 11:269-75. 2007
    ..Screening using an elevated TfSat criterion would fail to detect some C282Y homozygotes aged 25-29 years...
  13. doi request reprint HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Am J Hematol 84:710-4. 2009
    ..Genetic regions in linkage disequilibrium with HJV c.-6C>G and FTL L55L could partly explain high TS/SF phenotypes in whites. Am. J. Hematol., 2009. Published 2009 Wiley-Liss, Inc...
  14. pmc Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS study initial screening
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Am J Hematol 83:126-32. 2008
    ..Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire...
  15. ncbi request reprint Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL, USA
    Blood Cells Mol Dis 31:102-11. 2003
    ..These observations could be explained by the increased frequencies of HLA-A*03-B*07 in C282Y homozygotes and in CVID and IgGSD, and by the common occurrence of putative CVID or IgGSD allele(s) on haplotypes bearing C282Y...
  16. ncbi request reprint Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama 35209, USA
    Genet Test 9:231-41. 2005
    ..Possible explanations for differences in TfSat and SF in whites and blacks and pertinence to the detection of hemochromatosis, iron overload, and other disorders with similar phenotypes are discussed...
  17. ncbi request reprint HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 34:38-47. 2005
    ....
  18. doi request reprint Increased risk of death from iron overload among 422 treated probands with HFE hemochromatosis and serum levels of ferritin greater than 1000 μg/L at diagnosis
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Clin Gastroenterol Hepatol 10:412-6. 2012
    ..We investigated the risk of death from iron overload among treated hemochromatosis probands who were homozygous for HFE C282Y and had serum levels of ferritin greater than 1000 μg/L at diagnosis...
  19. doi request reprint Longer survival associated with HLA-A*03, B*14 among 212 hemochromatosis probands with HFE C282Y homozygosity and HLA-A and -B typing and haplotyping
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL, USA
    Eur J Haematol 85:439-47. 2010
    ..Human leukocyte antigen (HLA) haplotypes may influence iron phenotypes in patients with HFE hemochromatosis and could affect survival...
  20. pmc Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
    Charles A Rivers
    Departments of Microbiology, Medicine, and Epidemiology and International Health, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    Blood Cells Mol Dis 38:247-52. 2007
    ..012). There were no significant differences in Q248H frequencies in men and women control participants. We conclude that the frequency of the FPN1 Q248H polymorphism is greater in AA men with elevated SF than in those with normal SF...
  21. pmc VKORC1 polymorphisms, haplotypes and haplotype groups on warfarin dose among African-Americans and European-Americans
    Nita A Limdi
    Department of Neurology, University of Alabama at Birmingham, 1719 6th Avenue South, CIRC 312, Birmingham AL 35294 0021, USA
    Pharmacogenomics 9:1445-58. 2008
    ..However, the inadequate representation of African-Americans and the assessment of a few VKORC1 polymorphisms have hindered this effort...
  22. ncbi request reprint Countries of ancestry reported by hemochromatosis probands and control subjects in central Alabama
    Ellen H Barton
    University of Alabama at Birmingham, Southern Iron Disorders Center, Birmingham, Alabama, USA
    Ethn Dis 14:73-81. 2004
    ..0896) is due to a predominance of persons of Irish and Scots descent, and is not attributable to Native American ancestry common in this geographic area...
  23. pmc Effect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands with HFE C282Y homozygosity
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    BMC Med Genet 7:22. 2006
    ..Twenty-eight percent of 80 Alabama white hemochromatosis probands with HFE C282Y homozygosity previously reported having Native American ancestry, but the possible effect of this ancestry on hemochromatosis phenotypes was unknown...
  24. pmc Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population
    James C Barton
    Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama
    BMC Med Genet 5:29. 2004
    ..Thus, we estimated the frequency of the HJV missense mutations I222N and G320V in adult whites and African Americans from Alabama general population convenience samples...
  25. ncbi request reprint Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency
    J C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Genet Med 3:294-300. 2001
    ..Two unrelated African Americans had hemochromatosis phenotypes and genotypes. We sought to identify origins of their HFE mutations and estimate frequencies of similar cases...
  26. ncbi request reprint Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload
    E H Barton
    Immunogenetics Program, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Blood Cells Mol Dis 27:279-84. 2001
    ....
  27. pmc Thyroid-stimulating hormone and free thyroxine levels in persons with HFE C282Y homozygosity, a common hemochromatosis genotype: the HEIRS study
    James C Barton
    Southern Iron Disorders Center, 2022 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
    Thyroid 18:831-8. 2008
    ..We evaluated thyroid-stimulating hormone (TSH) and free thyroxine (T4) in white participants of the primary care-based Hemochromatosis and Iron Overload Screening (HEIRS) Study...
  28. pmc HFE C282Y and H63D in adults with malignancies in a community medical oncology practice
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    BMC Cancer 4:6. 2004
    ..We sought to compare frequencies of HFE C282Y and H63D alleles and associated odds ratios (OR) in 100 consecutive unrelated white adults with malignancy to those in 318 controls...
  29. ncbi request reprint Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping
    J C Barton
    Southern Iron Disorders Center, Birmingham, Alabama 35209, USA
    Genet Med 1:89-93. 1999
    ..We wanted to compare phenotyping and HFE genotyping for diagnosis of hemochromatosis in 150 family members of 61 probands...
  30. ncbi request reprint Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
    J C Barton
    Southern Iron Disorders Center, Birmingham, Alabama 35209, USA
    Blood Cells Mol Dis 25:147-55. 1999
    ..We conclude that uncommon HFE exon and intron mutations may be discovered among hemochromatosis patients who have "atypical" HFE genotypes...
  31. pmc HLA-A and -B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    BMC Med Genet 4:3. 2003
    ..We wanted to quantify HLA-A and -B phenotype and haplotype frequencies in Alabama index patients with common variable immunodeficiency (CVID) and selective IgG subclass deficiency (IgGSD), and in control subjects...
  32. pmc Kidney function influences warfarin responsiveness and hemorrhagic complications
    Nita A Limdi
    Department of Neurology, University of Alabama at Birmingham, 1719 6th Avenue South, CIRC 312, Birmingham, Alabama 35294 0021, USA
    J Am Soc Nephrol 20:912-21. 2009
    ..Diminished renal function may have implications for a larger proportion of warfarin users than previously estimated...
  33. pmc SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent
    James C Barton
    Southern Iron Disorders Center, G105, 2022 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 39:206-11. 2007
    ..Although OR estimates of iron overload in African-Americans and Native Africans with Q248H were greater than unity, the increased OR were not statistically significant...
  34. ncbi request reprint Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships
    James C Barton
    Southern Iron Disorders Center, G 105, 2022 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 29:104-15. 2002
    ..The present cases do not have HFE genotypes typical of hemochromatosis diagnosed in adults. Hashimoto thyroiditis, linked to Ch6p in many kinships, did not segregate with JH alleles on Ch1q in the present kinship...
  35. ncbi request reprint 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
    J C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Genet Test 4:199-206. 2000
    ....
  36. doi request reprint HFE hemochromatosis and hepatic sarcoid
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Am J Med Sci 337:386-90. 2009
    ..We reviewed previous reports of 4 patients with hemochromatosis and sarcoid. We conclude that a combination of sarcoid, steatosis, and excessive hepatocyte iron caused cirrhosis or hepatic fibrosis in the proband and her son...
  37. doi request reprint Hemochromatosis and Vibrio vulnificus wound infections
    James C Barton
    Southern Iron Disorders Center Departments of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA
    J Clin Gastroenterol 43:890-3. 2009
    ..V. vulnificus wound infection occurs in some persons with hemochromatosis, but the risk of infection may be small. All patients with V. vulnificus infections should be evaluated for hemochromatosis, iron overload, and liver disorders...
  38. doi request reprint A comparison between whites and blacks with severe multi-organ iron overload identified in 16,152 autopsies
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Clin Gastroenterol Hepatol 7:781-785.e2. 2009
    ..Little is known about differences in the prevalence of severe iron overload at death in whites and blacks. We evaluated data and samples from 16,152 autopsies (8484 whites, 7668 blacks) performed at a single university hospital...
  39. ncbi request reprint Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis
    J C Barton
    Southern Iron Disorders Center and Brookwood Medical Center, Birmingham, Alabama 35209, USA
    Blood Cells Mol Dis 23:135-45; discussion 145a-b. 1997
    ..Further, our findings support the hypothesis that one or more MHC-linked genes other than that corresponding to the Cys282Tyr and His63Asp mutations contributes to increased iron absorption and iron overload in hemochromatosis probands...
  40. ncbi request reprint Predictors of belief that genetic test information about hemochromatosis should be shared with family members
    Diane C Tucker
    University of Alabama at Birmingham, Birmingham, Alabama 35294 1414, USA
    Genet Test 10:50-9. 2006
    ....
  41. doi request reprint Relationships of serum free thyroxine and erythrocyte measures in euthyroid HFE C282Y homozygotes and control subjects: the HEIRS study
    J C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Int J Lab Hematol 32:282-7. 2010
    ..0096) and a negative correlation with RDW (P = 0.0286). Among euthyroid white adults without iron deficiency, there are significant correlations of log(10) free T4 with Hb and RDW in controls, but not in HFE C282Y homozygotes...
  42. ncbi request reprint Hemochromatosis detection in a health screening program at an Alabama forest products mill
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL, USA
    J Occup Environ Med 44:745-51. 2002
    ..We conclude that detecting hemochromatosis in a workplace multiphasic health screening program is efficacious and economical...
  43. pmc Racial differences in the prevalence of Factor V Leiden mutation among patients on chronic warfarin therapy
    N A Limdi
    Department of Neurology, University of Alabama at Birmingham, 1719 6th Avenue South, CIRC 312, 35294 0021, USA
    Blood Cells Mol Dis 37:100-6. 2006
    ..In European Americans, but not in African Americans, the GA genotype was more prevalent in patients with venous compared to arterial thromboembolic events...
  44. ncbi request reprint Prevalence and risk factors of microalbuminuria in a cohort of African-American women with gestational diabetes
    R C Go
    Department of Epidemiology, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Diabetes Care 24:1764-9. 2001
    ....
  45. pmc Influence of CYP2C9 and VKORC1 on warfarin response during initiation of therapy
    N A Limdi
    Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294 0021, USA
    Blood Cells Mol Dis 43:119-28. 2009
    ..Herein we present the influence of CYP2C9 and VKORC1 C1173T on warfarin response during the first 30 days of therapy...
  46. ncbi request reprint A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene
    C A Rivers
    Department of Microbiology, University of Alabama at Birmingham, 35294, USA
    Genet Test 5:131-4. 2001
    ..The modified assay is robust and cost-efficient, and may be more useful for large-scale population studies because it can be performed rapidly on DNA extracted from buccal swabs...
  47. ncbi request reprint Investigation of association of 13 polymorphisms in eight genes in southeastern African American Alzheimer disease patients as compared to age-matched controls
    R T Perry
    Department of Epidemiology and International Health, University of Alabama at Birmingham, 35294, USA
    Am J Med Genet 105:332-42. 2001
    ..In addition, TNF appears to have some modifying effect in AD, primarily on age of onset, or it could be in linkage disequilibrium with a modifier locus nearby...
  48. ncbi request reprint Knowledge, attitudes, and behaviors of Alabama's primary care physicians regarding cancer genetics
    R T Acton
    Department of Microbiology, Schools of Medicine, Dentistry, and Public Health, University of Alabama at Birmingham, 35294 4400, USA
    Acad Med 75:850-2. 2000
    ..To determine Alabama's primary care physicians' knowledge, attitudes, and behaviors regarding cancer genetics...
  49. ncbi request reprint Associations of MHC genes with levels of caries-inducing organisms and caries severity in African-American women
    R T Acton
    Department of Microbiology, Schools of Dentistry, Medicine and Public Health, University of Alabama at Birmingham 35294 4400, USA
    Hum Immunol 60:984-9. 1999
    ..These results support an hypothesis of an association between host HLA class II and TNFa genetic profile and colonization of S. mutans, L. casei, and L. acidophilus thought to be pathogens involved in the etiology of dental caries...
  50. ncbi request reprint Genetic association of 11 beta-hydroxysteroid dehydrogenase type 2 (HSD11B2) flanking microsatellites with essential hypertension in blacks
    B Watson
    Division of Nephrology, University of Alabama School of Medicine, Birmingham
    Hypertension 28:478-82. 1996
    ..Confirmation of our findings in another independently ascertained group of hypertensive subjects will provide a basis for proceeding with sib-pair linkage analyses...
  51. ncbi request reprint SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family
    R T Perry
    University of Alabama at Birmingham, USA
    Am J Med Genet 60:12-8. 1995
    ..It does not appear that mutations at the PRNP locus are frequently associated with AD in this population...
  52. pmc Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African-American and European-American patients on warfarin
    N A Limdi
    Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Clin Pharmacol Ther 83:312-21. 2008
    ..7; 95% CI: 0.7-4.4) or minor (HR 0.8; 95% CI: 0.5-1.3) hemorrhage. The variant CYP2C9 genotype is associated with an increased risk of major hemorrhage, which persists even after stabilization of therapy...
  53. ncbi request reprint Survey of physician knowledge about hemochromatosis
    Ronald T Acton
    Immunogenetics Program, Departments of Microbiology, Medicine, and Epidemiology, University of Alabama at Birmingham, Alabama, USA
    Genet Med 4:136-41. 2002
    ..To survey physicians about knowledge of hemochromatosis...
  54. pmc Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans
    Nita A Limdi
    University of Alabama at Birmingham, Department of Neurology, 1719 6th Avenue South, CIRC 312, Birmingham, AL 35294 0021, USA
    Pharmacogenomics 9:511-26. 2008
    ....
  55. ncbi request reprint DR beta Taq I restriction fragment length polymorphism (RFLP) associated with insulin dependent diabetes mellitus (IDDM)
    T W Hodge
    Department of Microbiology, School of Medicine, University of Alabama, Birmingham 35294
    Dis Markers 5:109-17. 1987
    ..Although a high percentage (47 per cent) of the control population also carried the fragment, nearly one-third of those persons were serotyped as DR2. The possible role of gene regulation in the development of IDDM is discussed...
  56. ncbi request reprint Population screening for hemochromatosis: has the time finally come?
    J C Barton
    Southern Iron Disorders Center, G 105, 2022 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
    Curr Gastroenterol Rep 2:18-26. 2000
    ..Although related issues warrant further study, implementation of well-designed screening programs for hemochromatosis should not be delayed...
  57. ncbi request reprint Vibrio vulnificus infection in a hemodialysis patient receiving intravenous iron therapy
    James C Barton
    Southern Iron Disorders Center, Department of Medicine, Brookwood Medical Center, Birmingham, AL 35209, USA
    Clin Infect Dis 37:e63-7. 2003
    ..Persons with renal disease, especially those treated with long-term hemodialysis and intravenous iron infusions, may have an increased risk of infection with V. vulnificus...
  58. ncbi request reprint Serum ferritin and transferrin saturation in Asians and Pacific Islanders
    Emily L Harris
    Kaiser Permanente Center for Health Research, Portland, OR Honolulu, HI, USA
    Arch Intern Med 167:722-6. 2007
    ....
  59. ncbi request reprint Psychosocial impact of genetic testing for hemochromatosis in the HEIRS Study: a comparison of participants recruited in Canada and in the United States
    Tara E Power
    London Ontario Health Sciences Center, London, Ontario, Canada
    Genet Test 11:55-64. 2007
    ..S. individuals, although fewer Canadians may experience a negative response to such testing...
  60. ncbi request reprint 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
    Pauline L Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, MEM 215, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 36:292-7. 2006
    ..Thus, ALAS2 mutations might contribute to more severe iron loading in persons with primary hemochromatosis...
  61. ncbi request reprint Impact of hemochromatosis screening in patients with indeterminate results: the hemochromatosis and iron overload screening study
    Roger T Anderson
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Genet Med 8:681-7. 2006
    ..Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin...
  62. ncbi request reprint Mixture models of serum iron measures in population screening for hemochromatosis and iron overload
    Christine E McLaren
    Epidemiology Division, Department of Medicine, University of California, Irvine, CA 92697, USA
    Transl Res 148:196-206. 2006
    ..It was concluded that mixture modeling of phenotypic data may provide a clinical guide for screening with gender-specific thresholds to identify potential samples for genetic testing...
  63. ncbi request reprint Liver diseases in the hemochromatosis and iron overload screening study
    Paul C Adams
    Department of Medicine, University Hospital, 339 Windermere Road, London, Ontario, Canada N6A 5A5
    Clin Gastroenterol Hepatol 4:918-23; quiz 807. 2006
    ..The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 primary care participants for iron overload with serum transferrin saturation (TS), ferritin, and C282Y and H63D mutations of the HFE gene...
  64. ncbi request reprint Patient acceptability of genotypic testing for hemochromatosis in primary care
    Roger T Anderson
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Genet Med 7:557-63. 2005
    ..Genetic screening can enable timely detection and treatment of hereditary hemochromatosis (HH). Little is known about patient acceptability of DNA testing as compared to conventional phenotypic testing...
  65. ncbi request reprint Hemochromatosis and iron-overload screening in a racially diverse population
    Paul C Adams
    Department of Medicine, London Health Sciences Centre, London, Ont, Canada
    N Engl J Med 352:1769-78. 2005
    ..Iron overload and hemochromatosis are common, treatable conditions. HFE genotypes, levels of serum ferritin, transferrin saturation values, and self-reported medical history were studied in a multiethnic primary care population...
  66. ncbi request reprint Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study
    Christine E McLaren
    Department of Epidemiology, University of California, Irvine, California 92697, USA
    Am J Hematol 82:898-905. 2007
    ..2 g/dL higher in women with C282Y/C282Y than in controls. Greater mean MCV in C282Y homozygosity reflects increased mean TfSat and mean SF in men and women; an additional effect of genotype on MCV and Hb was detected in women...
  67. ncbi request reprint African Americans at risk for increased iron stores or liver disease
    Fitzroy W Dawkins
    Division of Hematology Oncology, Department of Medicine, Howard University, Washington, DC, USA
    Am J Med 120:734.e1-9. 2007
    ....
  68. pmc Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population
    Victor R Gordeuk
    Department of Medicine and Center for Sickle Cell Disease, Howard University, Washington, District of Columbia 20060, USA
    Am J Hematol 83:618-26. 2008
    ..Serum ferritin >900 microg/L in male C282Y homozygotes is predictive of moderately increased iron stores...
  69. pmc Bivariate mixture modeling of transferrin saturation and serum ferritin concentration in Asians, African Americans, Hispanics, and whites in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
    Christine E McLaren
    Department of Epidemiology, University of California, Irvine, California, USA
    Transl Res 151:97-109. 2008
    ..This approach can identify populations in which hereditary or acquired factors influence metabolism measurement...
  70. ncbi request reprint Results communication and patient education after screening for possible hemochromatosis and iron overload: experience from the HEIRS Study of a large ethnically and linguistically diverse group
    Ann P Walker
    Division of Human Genetics, Department of Pediatrics, University of California, Irvine, Orange, California 92868 3298, USA
    Genet Med 9:778-91. 2007
    ....
  71. ncbi request reprint Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults
    Christine E McLaren
    Epidemiology Division, College of Medicine, University of California, Irvine 92697, USA
    Am J Med Sci 325:53-62. 2003
    ..Participants are recruited from 5 Field Centers. Laboratory testing and data management and analysis are performed in a Central Laboratory and Coordinating Center, respectively...
  72. ncbi request reprint Genetic screening for iron overload: No evidence of discrimination at 1 year
    Mark A Hall
    Wake Forest University Medical School, Department of Public Health Sciences, 2000 West 1st Street, Winston Salem, NC 27157 1063, USA
    J Fam Pract 56:829-34. 2007
    ..This study measured the extent of insurance and employment problems associated with population screening for hereditary hemochromatosis and iron overload...
  73. ncbi request reprint Genetic predictors of coronary heart disease risk factors in premenopausal African-American women
    Joyce Newman Giger
    School of Nursing, University of California at Los Angeles, 90095 6919, USA
    Ethn Dis 15:221-32. 2005
    ..The sample, drawn from community and military sources, included premenopausal AAW (mean age=34.18) who were at low risk (n=117) and high risk (n=173) for CHD...
  74. pmc Biological variability of transferrin saturation and unsaturated iron-binding capacity
    Paul C Adams
    Department of Medicine, University Hospital, London, Ontario, Canada
    Am J Med 120:999.e1-7. 2007
    ..Unsaturated iron-binding capacity has similar performance at lower cost. However, the within-person biological variability of both these tests may limit their ability at commonly used cut points to detect HFE C282Y homozygous patients...