James C Barton

Summary

Affiliation: Southern Iron Disorders Center
Country: USA

Publications

  1. ncbi request reprint Screening for hemochromatosis in routine medical care: an evaluation of mean corpuscular volume and mean corpuscular hemoglobin
    J C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Genet Test 4:103-10. 2000
  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. doi request reprint Recurrent acute kidney injury associated with metastatic bronchial carcinoid
    James C Barton
    Department of Medicine, Brookwood Medical Center, Birmingham, Alabama 35209, USA
    Am J Med Sci 343:106-8. 2012
  4. ncbi request reprint Chelation therapy for iron overload
    James C Barton
    Southern Iron Disorders Center, G 105, 2022 Brookwood Medical Center Drive, Birmingham, AL 35243, USA
    Curr Gastroenterol Rep 9:74-82. 2007
  5. 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
  6. 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
  7. ncbi request reprint Deferasirox Novartis
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Curr Opin Investig Drugs 6:327-35. 2005
  8. 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
  9. 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
  10. ncbi request reprint Hemochromatosis, HFE C282Y homozygosity, and bariatric surgery: report of three cases
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL, USA
    Obes Surg 14:1409-14. 2004

Detail Information

Publications83

  1. ncbi request reprint Screening for hemochromatosis in routine medical care: an evaluation of mean corpuscular volume and mean corpuscular hemoglobin
    J C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Genet Test 4:103-10. 2000
    ..Comparisons of MCV, MCH, and transferrin saturation testing and other implications of MCV and MCH testing for hemochromatosis in medical care are discussed...
  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. doi request reprint Recurrent acute kidney injury associated with metastatic bronchial carcinoid
    James C Barton
    Department of Medicine, Brookwood Medical Center, Birmingham, Alabama 35209, USA
    Am J Med Sci 343:106-8. 2012
    ..The natriuretic effect of elevated plasma dopamine levels could explain chronic hyponatremia...
  4. ncbi request reprint Chelation therapy for iron overload
    James C Barton
    Southern Iron Disorders Center, G 105, 2022 Brookwood Medical Center Drive, Birmingham, AL 35243, USA
    Curr Gastroenterol Rep 9:74-82. 2007
    ....
  5. 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...
  6. 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...
  7. ncbi request reprint Deferasirox Novartis
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Curr Opin Investig Drugs 6:327-35. 2005
    ..By December 2004, data from a phase III trial for iron overload had been released, and filing is expected in the US and EU in the first half of 2005...
  8. 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...
  9. 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
    ....
  10. ncbi request reprint Hemochromatosis, HFE C282Y homozygosity, and bariatric surgery: report of three cases
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL, USA
    Obes Surg 14:1409-14. 2004
    ..Iron absorption is decreased in some individuals who have undergone bariatric surgery...
  11. ncbi request reprint Characteristics of HFE C282Y homozygotes younger than age 30 years
    James C Barton
    Southern Iron Disorders Center, University of Alabama at Birmingham, Birmingham, AL 35209, USA
    Acta Haematol 112:219-21. 2004
  12. ncbi request reprint Bilateral subdural hematomas in an adult with hereditary factor VII deficiency: A complication of sit-ups and inversion?
    James C Barton
    Clin Appl Thromb Hemost 15:242-4. 2009
    ....
  13. 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...
  14. ncbi request reprint Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 34:226-8. 2005
    ..The occurrence of anemia and iron overload may be discordant in women heterozygous for ALAS2 mutations...
  15. 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...
  16. ncbi request reprint Vibrio vulnificus bacteremia associated with chronic lymphocytic leukemia, hypogammaglobulinemia, and hepatic cirrhosis: relation to host and exposure factors in 252 V. vulnificus infections reported in Louisiana
    James C Barton
    Southern Iron Disorders Center, and the Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama 35029, USA
    Am J Med Sci 332:216-20. 2006
    ..Vibrio vulnificus infection in persons with B-chronic lymphocytic leukemia (B-CLL) or hypogammaglobulinemia has been reported infrequently...
  17. ncbi request reprint Optimal management strategies for chronic iron overload
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama 35209, USA
    Drugs 67:685-700. 2007
    ..Research needed to advance knowledge about treatment of iron overload is proposed...
  18. ncbi request reprint Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Am J Hematol 81:760-7. 2006
    ..Therapeutic phlebotomy is feasible and effective, and would prevent complications of iron overload...
  19. ncbi request reprint Drug evaluation: deferitrin (GT-56-252; NaHBED) for iron overload disorders
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, AL 35209, USA
    IDrugs 10:270-81. 2007
    ..A phase I/II trial that began in September 2003 has reportedly completed recruitment...
  20. 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...
  21. 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...
  22. ncbi request reprint Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study
    J C Barton
    Southern Iron Disorders Center, University of Alabama at Birmingham Birmingham, AL 35209, USA
    Clin Genet 69:48-57. 2006
    ..0001). We conclude that the screening TfSat and SF phenotypes of Native Americans are similar to those of whites. The allele frequencies of HFE C282Y and H63D are significantly lower in Native Americans than in whites...
  23. ncbi request reprint Drug evaluation: Deferitrin for iron overload disorders
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    IDrugs 10:480-90. 2007
    ..A phase I/II clinical trial that began in September 2003 has reportedly completed recruitment...
  24. 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...
  25. ncbi request reprint A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote
    J C Barton
    Southern Iron Disorders Center, Birmingham, AL, USA
    Clin Genet 66:214-6. 2004
    ..del277 mutation was linked to the HLA haplotype A*02, B*44 and therefore not on the same chromosome as the C282Y mutation. Thus, the present patient's only intact HFE protein is C282Y, and this may explain his hemochromatosis phenotype...
  26. 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...
  27. ncbi request reprint Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 36:342-6. 2006
    ..Possible explanations for the disparate red blood cell and iron phenotypes of the proband and his family members are discussed...
  28. 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...
  29. pmc Pica associated with iron deficiency or depletion: clinical and laboratory correlates in 262 non-pregnant adult outpatients
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    BMC Blood Disord 10:9. 2010
    ..abstract:..
  30. ncbi request reprint Severity of iron overload in hemochromatosis: effect of volunteer blood donation before diagnosis
    J C Barton
    Southern Iron Disorders Center and Division of Hematology and Oncology, University of Alabama at Birmingham, Birmingham, Alabama 35209, USA
    Transfusion 41:123-9. 2001
    ..An effort was made to determine if volunteer blood donation before diagnosis decreases the severity of iron overload at diagnosis in persons with hemochromatosis...
  31. ncbi request reprint Iron deficiency due to excessive therapeutic phlebotomy in hemochromatosis
    J C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Am J Hematol 65:223-6. 2000
    ..However, iron supplementation is unnecessary and not recommended for the mild, self-limited anemia and decreased serum iron and ferritin concentrations encountered after initial iron depletion therapy for hemochromatosis...
  32. 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...
  33. 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
    ....
  34. 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...
  35. ncbi request reprint Hemochromatosis probands as blood donors
    J C Barton
    Southern Iron Disorders Center, Birmingham, Alabama 35209, USA
    Transfusion 39:578-85. 1999
    ..There has been no estimate of the potential eligibility of hemochromatosis probands or patients as blood donors or the suitability for transfusion of their blood that was removed by therapeutic phlebotomy...
  36. 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...
  37. 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...
  38. 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...
  39. 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...
  40. 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...
  41. 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...
  42. 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...
  43. ncbi request reprint Thalidomide and dexamethasone therapy of myeloma in a patient with previously untreated B-chronic lymphocytic leukemia
    James C Barton
    Department of Medicine, Brookwood Medical Center, Birmingham, Alabama, USA
    Am J Hematol 74:205-7. 2003
    ..Thalidomide and dexamethasone therapy similar to that administered for myeloma alone may be effective treatment for myeloma in patients with preexisting B-CLL and may also have anti-B-CLL activity...
  44. 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...
  45. 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...
  46. 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
    ....
  47. 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...
  48. 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...
  49. 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 &..
  50. 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...
  51. 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...
  52. 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...
  53. doi request reprint Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G
    Norman L Sussman
    Department of Medicine, Baylor College of Medicine, Houston, Tex, USA
    Acta Haematol 120:168-73. 2008
    ..X-linked sideroblastic anemia (XLSA) is associated with iron overload and mutations in ALAS2, which encodes 5-aminolevulinate synthase. There are few reports of XLSA in persons of sub-Saharan African descent...
  54. pmc Differences in hepatic phenotype between hemochromatosis patients with HFE C282Y homozygosity and other HFE genotypes
    Raymond Cheng
    Department of Medicine, University of Washington, Seattle, WA, USA
    J Clin Gastroenterol 43:569-73. 2009
    ..The goal of this study was to compare hepatic histopathologic features and hepatic iron concentration (HIC) among patients with phenotypic hemochromatosis and different HFE genotypes...
  55. ncbi request reprint Attitudes about and psychosocial outcomes of HFE genotyping for hemochromatosis
    Bret L Hicken
    Department of Psychology, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    Genet Test 8:90-7. 2004
    ..In the present hemochromatosis patients, few reported that HFE genotyping was accompanied by negative psychosocial outcomes...
  56. 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...
  57. ncbi request reprint Patient compliance with phlebotomy therapy for iron overload associated with hemochromatosis
    Bret L Hicken
    Department of Psychology, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Am J Gastroenterol 98:2072-7. 2003
    ..The aim of this study was to evaluate patient compliance with phlebotomy therapy of hemochromatosis-associated iron overload...
  58. ncbi request reprint Remission of porphyria cutanea tarda after anastrozole treatment of breast cancer
    Luigi F Bertoli
    Department of Medicine, Brookwood Medical Center, Birmingham, AL, USA
    Clin Breast Cancer 7:716-8. 2007
    ..The pertinence of HFE mutations, anastrozole and tamoxifen treatment, and chemotherapy to the development and management of PCT in women with breast cancer is discussed...
  59. 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...
  60. pmc Hemoglobin binding to A beta and HBG2 SNP association suggest a role in Alzheimer's disease
    Rodney T Perry
    Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL 35294 0022, USA
    Neurobiol Aging 29:185-93. 2008
    ..010) and >65 years (p=0.013), and families not homozygous for the APOE4 allele (p=0.041). We hypothesize that Hb F may be less toxic than adult Hb in its interaction with A beta and may protect against the development of AD...
  61. 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...
  62. pmc Enhanced levels of both the membrane-bound and soluble forms of IgM Fc receptor (FcμR) in patients with chronic lymphocytic leukemia
    Fu Jun Li
    Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA
    Blood 118:4902-9. 2011
    ..These findings indicate enhanced levels of both membrane-bound and soluble forms of FcμR in CLL patients...
  63. 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...
  64. ncbi request reprint Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin
    Pauline L Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 N Torrey Pines Road, La Jolla, CA 92037, USA
    Blood 103:4669-71. 2004
    ..238T>C (C80R) and c.302T>C (L101P). In the second kinship, 2 previously identified mutations, G320V and I222N, were found. These studies confirm that mutations in HJV cause juvenile hemochromatosis...
  65. ncbi request reprint Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 31:305-9. 2003
    ..This variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload...
  66. ncbi request reprint Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis
    Elizabeth D Morrison
    University of Washington, Seattle, Washington 98195, USA
    Ann Intern Med 138:627-33. 2003
    ..DNA-based HFE gene testing can confirm hereditary hemochromatosis in most people of Northern European descent. However, liver biopsy is important to detect cirrhosis...
  67. ncbi request reprint Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis
    Pauline L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA
    Br J Haematol 127:224-9. 2004
    ..Notable among these was a DNA triplet insert, predicting an insertion of glycine, found in two African-American subjects, one with and one without iron storage disease...
  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 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...
  71. 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...
  72. 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...
  73. 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...
  74. 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...
  75. ncbi request reprint Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R
    Pauline L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA
    Acta Haematol 115:102-5. 2006
    ..The patient did not have coding region mutations in HAMP, FPN1, HJV or ALAS2. We conclude that this patient represents another example of hemochromatosis due to mutations of the gene encoding transferrin receptor 2...
  76. ncbi request reprint Concerns in a primary care population about genetic discrimination by insurers
    Mark A Hall
    Wake Forest University Medical School, Department of Public Health Sciences, Winston Salem, North Carolina 27157 1063, USA
    Genet Med 7:311-6. 2005
    ..This is a major impetus for laws limiting insurers' use of genetic information, yet there is little information about the extent of this fear in the general population and how it varies by social factors...
  77. 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...
  78. 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...
  79. ncbi request reprint Comparison of the unsaturated iron-binding capacity with transferrin saturation as a screening test to detect C282Y homozygotes for hemochromatosis in 101,168 participants in the hemochromatosis and iron overload screening (HEIRS) study
    Paul C Adams
    Department of Medicine, London Health Sciences Center, London, Ontario, Canada
    Clin Chem 51:1048-52. 2005
  80. ncbi request reprint Haemochromatosis
    Paul C Adams
    University Hospital, London, ON, Canada
    Lancet 370:1855-60. 2007
    ..Phlebotomy therapy improves hepatic fibrosis. Here, we summarise some new findings in haemochromatosis, a disorder first described in 1865...
  81. ncbi request reprint The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 33:344-5. 2004
    ..Indeed, the small difference found is in the opposite direction of that reported previously...
  82. ncbi request reprint SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype
    Pauline L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, Calif, USA
    Acta Haematol 118:237-41. 2007
    ..To determine the molecular basis of a mild hemochromatosis phenotype in a man of Scottish-Irish descent...
  83. 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...