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Paul C. Adams - One of the best experts on this subject based on the ideXlab platform.
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iron overload and cirrhosis in referred hfe p c282y homozygotes with normal Transferrin Saturation and elevated serum ferritin
Canadian Liver Journal, 2020Co-Authors: Paul C. Adams, James C BartonAbstract:Background: Elevated Transferrin Saturation (TS) is an imperfect test to identify adults with high-iron gene (HFE) p.C282Y homozygosity or elevated hepatic iron concentration. Methods: We analyzed ...
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predicting c282y homozygote genotype for hemochromatosis using serum ferritin and Transferrin Saturation values from 44 809 participants of the heirs study
Canadian Journal of Gastroenterology & Hepatology, 2014Co-Authors: Andrew S P Lim, Mark Speechley, Paul C. AdamsAbstract:INTRODUCTION: The simultaneous interpretation of serum ferritin level and Transferrin Saturation has been used as a clinical guide to diagnose genetic hemochromatosis. The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 North American participants for serum ferritin level and Transferrin Saturation, and C282Y genotyping for the HFE gene.
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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
2012Co-Authors: Christine E Mclaren, Victor R Gordeuk, Paul C. Adams, James C Barton, Ronald T Acton, Mark Speechley, Wen-pin Chen, Oswaldo Castro, Beverly M. Snively, Emily L HarrisAbstract:Bivariate mixture modeling was used to analyze joint population distributions of Transferrin Saturation (TS) and serum ferritin concentration (SF) measured in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Four components (C1, C2, C3, and C4) with successively age-adjusted increasing means for TS and SF were identified in data from 26,832 African Americans, 12,620 Asians, 12,264 Hispanics, and 43,254 whites. The largest component
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a diagnostic approach to hyperferritinemia with a non elevated Transferrin Saturation
Journal of Hepatology, 2011Co-Authors: Paul C. Adams, James C BartonAbstract:Elevated serum ferritin concentrations are common in clinical practice. In this review, we provide an approach to interpreting the serum ferritin elevation in relationship to other clinical parameters including the patient history, Transferrin Saturation, serum concentrations of alanine, and aspartate aminotransferases (ALT, AST), testing for HFE mutations, liver imaging, liver biopsy, and liver iron concentration. We used observations from a large series of patients with hepatic iron overload documented by liver iron concentration measurement from two referral practices as a gold standard to guide the interpretation of the predictive values of non-invasive iron tests. Three case studies illustrate common problems in interpreting iron blood tests.
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biological variability of Transferrin Saturation and unsaturated iron binding capacity
The American Journal of Medicine, 2007Co-Authors: Paul C. Adams, David M Reboussin, Richard D Press, James C Barton, Ronald T Acton, Godfrey C Moses, Catherine Leiendeckerfoster, Gordon D Mclaren, Fitzroy W Dawkins, Victor R GordeukAbstract:Abstract Background Transferrin Saturation is widely considered the preferred screening test for hemochromatosis. 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. Methods The Hemochromatosis and Iron Overload Screening Study screened 101,168 primary care participants for iron overload using Transferrin Saturation, unsaturated iron-binding capacity, ferritin, and HFE C282Y and H63D genotyping. Transferrin Saturation and unsaturated iron-binding capacity were performed at initial screening and again when selected participants and controls returned for a clinical examination several months later. A missed case was defined as a C282Y homozygote who had Transferrin Saturation below the cut point (45% for women, 50% for men) or unsaturated iron-binding capacity above the cut point (150 μmol/L for women, 125 μmol/L for men) at the initial screening or the clinical examination, or both, regardless of serum ferritin. Results There were 209 C282Y previously undiagnosed homozygotes with Transferrin Saturation and unsaturated iron-binding capacity testing performed at the initial screening and clinical examination. Sixty-eight C282Y homozygotes (33%) would have been missed at these Transferrin Saturation cut points (19 men, 49 women; median serum ferritin level of 170 μg/L; first and third quartiles, 50 and 474 μg/L), and 58 homozygotes (28%) would have been missed at the unsaturated iron-binding capacity cut points (20 men, 38 women; median serum ferritin level of 168 μg/L; first and third quartiles, 38 and 454 μg/L). There was no advantage to using fasting samples. Conclusions The within-person biological variability of Transferrin Saturation and unsaturated iron-binding capacity limits their usefulness as an initial screening test for expressing C282Y homozygotes.
Victor R Gordeuk - One of the best experts on this subject based on the ideXlab platform.
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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
2012Co-Authors: Christine E Mclaren, Victor R Gordeuk, Paul C. Adams, James C Barton, Ronald T Acton, Mark Speechley, Wen-pin Chen, Oswaldo Castro, Beverly M. Snively, Emily L HarrisAbstract:Bivariate mixture modeling was used to analyze joint population distributions of Transferrin Saturation (TS) and serum ferritin concentration (SF) measured in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Four components (C1, C2, C3, and C4) with successively age-adjusted increasing means for TS and SF were identified in data from 26,832 African Americans, 12,620 Asians, 12,264 Hispanics, and 43,254 whites. The largest component
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biological variability of Transferrin Saturation and unsaturated iron binding capacity
The American Journal of Medicine, 2007Co-Authors: Paul C. Adams, David M Reboussin, Richard D Press, James C Barton, Ronald T Acton, Godfrey C Moses, Catherine Leiendeckerfoster, Gordon D Mclaren, Fitzroy W Dawkins, Victor R GordeukAbstract:Abstract Background Transferrin Saturation is widely considered the preferred screening test for hemochromatosis. 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. Methods The Hemochromatosis and Iron Overload Screening Study screened 101,168 primary care participants for iron overload using Transferrin Saturation, unsaturated iron-binding capacity, ferritin, and HFE C282Y and H63D genotyping. Transferrin Saturation and unsaturated iron-binding capacity were performed at initial screening and again when selected participants and controls returned for a clinical examination several months later. A missed case was defined as a C282Y homozygote who had Transferrin Saturation below the cut point (45% for women, 50% for men) or unsaturated iron-binding capacity above the cut point (150 μmol/L for women, 125 μmol/L for men) at the initial screening or the clinical examination, or both, regardless of serum ferritin. Results There were 209 C282Y previously undiagnosed homozygotes with Transferrin Saturation and unsaturated iron-binding capacity testing performed at the initial screening and clinical examination. Sixty-eight C282Y homozygotes (33%) would have been missed at these Transferrin Saturation cut points (19 men, 49 women; median serum ferritin level of 170 μg/L; first and third quartiles, 50 and 474 μg/L), and 58 homozygotes (28%) would have been missed at the unsaturated iron-binding capacity cut points (20 men, 38 women; median serum ferritin level of 168 μg/L; first and third quartiles, 38 and 454 μg/L). There was no advantage to using fasting samples. Conclusions The within-person biological variability of Transferrin Saturation and unsaturated iron-binding capacity limits their usefulness as an initial screening test for expressing C282Y homozygotes.
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serum ferritin and Transferrin Saturation in asians and pacific islanders
JAMA Internal Medicine, 2007Co-Authors: Emily L Harris, Christine E Mclare, David M Reboussi, James C Arto, Ronald T Acto, Gordo D Mclare, Thomas M Vog, Everly M Snively, Victor R Gordeuk, Catherine LeiendeckerfosteAbstract:Background Asians and Pacific Islanders in the Hemochromatosis and Iron Overload Screening (HEIRS) Study had the highest prevalence of elevated serum ferritin (SF) and Transferrin Saturation (TS) levels, but to our knowledge, the reasons for this have not been investigated. Methods Using multiple linear regression, we compared TS and SF distributions for 42 720 Asian, Pacific Islander, and white HEIRS Study participants recruited through 5 field centers in North America who did not haveHFEC282YorH63Dalleles. Results Compared with their white counterparts, Asian men had a 69-ng/mL (155-pmol/L) higher adjusted mean SF level and a 3% higher TS level (P Conclusion Higher TS and SF levels in persons of Asian or Pacific Island heritage may need to be interpreted differently than for whites, although the biological basis and clinical significance of higher levels among Asians and Pacific Islanders are unclear.
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initial screening Transferrin Saturation values serum ferritin concentrations and hfe genotypes in native americans and whites in the hemochromatosis and iron overload screening study
Clinical Genetics, 2005Co-Authors: James C Barton, Emily L Harris, Victor R Gordeuk, Paul C. Adams, David M Reboussin, Ronald T Acton, Fitzroy W Dawkins, Christine E Mclaren, Laura C Lovato, Ann P WalkerAbstract:We compared initial screening Transferrin Saturation (TfSat) and serum ferritin (SF) phenotypes and HFE C282Y and H63D genotypes of 645 Native American and 43,453 white Hemochromatosis and Iron Overload Screening Study participants who did not report a previous diagnosis of hemochromatosis or iron overload. Elevated measurements were defined as TfSat >50% in men and >45% in women and SF >300 ng/ml in men and >200 ng/ml in women. Mean TfSat was 31% in Native American men and 32% in white men (p = 0.0337) and 25% in Native American women and 27% in white women (p < 0.0001). Mean SF was 153 microg/l in Native American and 151 microg/l in white men (p = 0.8256); mean SF was 55 microg/l in Native American women and 63 microg/l in white women (p = 0.0015). The C282Y allele frequency was 0.0340 in Native Americans and 0.0683 in whites (p < 0.0001). The H63D allele frequency was 0.1150 in Native Americans and 0.1532 in whites (p = 0.0001). 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.
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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, 2005Co-Authors: James C Barton, Paul C. Adams, David M Reboussin, Ronald T Acton, Catherine Leiendeckerfoster, Fitzroy W Dawkins, Mark Speechley, Christine E Mclaren, Laura C Lovato, Victor R GordeukAbstract:We compared initial screening data of 44,082 white and 27,124 black Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. Each underwent serum Transferrin Saturation (TfSat) and ferritin (SF) measurements without regard to fasting, and HFE C282Y and H63D genotyping. Elevated measurements were defined as: TfSat more than 50% (men), more than 45% (women); and SF more than 300 ng/ml (men), more than 200 ng/ml (women). Mean TfSat and percentages of participants with elevated TfSat were significantly greater in whites than in blacks. Mean SF and percentages of participants with elevated SF were significantly greater in blacks than in whites. TfSat and SF varied by gender and age in whites and blacks. Prevalences of genotypes that included either C282Y or H63D were significantly greater in whites than in blacks. The prevalence of elevated TfSat and SF plus genotypes C282Y/C282Y, C282Y/H63D, or H63D/H63D was 0.006 in whites and 0.0003 in blacks. Among whites with HFE C282Y homozygosity, 76.8% o...
Arch G. Mainous - One of the best experts on this subject based on the ideXlab platform.
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elevated Transferrin Saturation health related quality of life and telomere length
Biometals, 2014Co-Authors: Arch G. Mainous, Gordon D Mclaren, Christine E Mclaren, Vanessa A Diaz, Mary M Hulihan, Robert U Wright, Waleed O Twal, Scott W Argraves, Althea M GrantAbstract:We sought to examine the relationship between elevated Transferrin Saturation (TS) and measures of health status (telomere length and patient-reported health-related quality of life) to assess whether elevated TS is associated with negative patient outcomes beyond increased risk for morbidity and mortality, using a cross-sectional analysis of the Hemochromatosis and Iron Overload Screening Study supplemented with assays for leukocyte telomere length in adults ≥25 years old (n = 669). Among individuals with elevated TS (≥45 % for women and ≥50 % for men), who also had a usual source of care, only 5.2 % reported ever being told by a doctor that they had an elevated iron condition. In a fully adjusted general linear regression model controlling for demographic characteristics as well as health conditions associated with iron overload, elevated TS versus non-elevated TS was associated with worse general health status (60.4 vs. 63.8, P < 0.05), mental health status (76.5 vs. 82.2, P < 0.0001) and shorter telomere length (241.4 vs. 261.3, P < 0.05). Increased surveillance of elevated TS may be in order as elevated TS is associated with decreased health status and very few patients with elevated TS are aware of their condition.
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elevated Transferrin Saturation health related quality of life and telomere length
Blood, 2013Co-Authors: Arch G. Mainous, Gordon D Mclaren, Christine E Mclaren, Vanessa A Diaz, Mary M Hulihan, Robert U Wright, Waleed O Twal, Scott W Argraves, Althea M GrantAbstract:Context Increased risk of heart disease, diabetes, dementia, cancer, and death has been found among individuals with elevated Transferrin Saturation (TS). Although TS has been linked to specific diseases, little research has focused on the relationship between elevated TS and current health status. Purpose This study examined the relationship between elevated TS and measures of health status (telomere length and patient-reported health-related quality of life) to assess whether elevated TS is associated with negative patient outcomes beyond increased risk for morbidity and mortality. Methods We conducted an analysis of the Hemochromatosis and Iron Overload Screening (HEIRS) Study supplemented with assays for leukocyte telomere length in adults (>25 years old). The HEIRS Study identified individuals through a multiethnic, multicenter sample of 101,168 US and Canadian adults. Screening was done with serum biochemical tests of iron status and hemochromatosis ( HFE) gene mutation testing. Our sample was comprised of HEIRS subjects with responses on health-related quality of life (general health (GH) and mental health (MH) subscales of the SF-36 Health Survey), and known leukocyte telomere length (n=669). Leukocyte telomere length was assessed through a quantitative PCR-based technique (qPCR). Unadjusted mean values of the general health status subscale, the mental health status subscale and telomere length were compared between groups with elevated TS (>45% for women and >50% for men) versus non-elevated TS ( 60% versus with non-elevated TS (<45% for women and <50% for men). For each of the quantitative outcomes of GH, MH, and telomere length, separate general linear regression models were formed with TS elevation as a dichotomous predictor, controlled for demographic characteristics as well as health conditions associated with iron overload. Results Among individuals with elevated TS (>45% for women and >50% for men), who also had a usual source of care, only 5.2% reported ever being told by a doctor that they had an elevated iron condition. Mean values for GH and MH, and telomere length were significantly lower in those with elevated TS ([Table 1][1]; p 60%) versus non-elevated TS. View this table: Table 1 Comparison of Mean General Health Scores, Mental Health Scores and Telomere Length by Transferrin Saturation Percentage Conclusions Increased surveillance of elevated TS may be in order as elevated TS is associated with decreased health status and very few patients with elevated TS are aware of their condition. Disclosures: No relevant conflicts of interest to declare. [1]: #T1
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Transferrin Saturation and hospital length of stay and mortality in medicare beneficiaries
Journal of the American Geriatrics Society, 2013Co-Authors: Arch G. Mainous, Vanessa A Diaz, Michele E Knoll, Mary M Hulihan, Althea M Grant, Robert U WrightAbstract:Objectives: To evaluate in a large, nationally representative cohort the association between high serum Transferrin Saturation (TS) and hospital length of stay and mortality in older adults. Design: Prospective cohort. Setting: Longitudinal analyses of the Third National Health and Nutrition Examination Survey linked to Medicare claims from 1991 through 2006. Participants: Medicare beneficiaries aged 65 and older at baseline. Measurements: Transferrin Saturation collected on each participant at baseline was characterized as <20.0%, 20.0% to 54.9%, and 55.0% and greater. Length of stay in the hospital and death in the hospital were primary outcomes. Analyses were adjusted for age, sex, race and ethnicity, education, and severity of illness. Results: Individuals hospitalized during the study period (79.4%) with high (odds ratio (OR) = 2.54, 95% confidence interval (CI) = 1.05�6.12) or low (OR = 1.31, 95% CI = 1.07�1.62) TS had a significantly greater risk of death than those with moderate TS. Individuals with high TS had longer average length of stay per hospitalization (11.1 days, (standard error, SE 1.7 days), P = .01) than those with moderate TS (8.4 (0.3) days). Individuals with high TS also had more hospital days per year (8.6 (2.0) days, P = .04) than those with moderate TS (6.7 (0.5) days). Conclusion: High TS is associated with longer length of stay and death in the hospital (unweighted N = 3,847, weighted N = 28,395,464).
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Transferrin Saturation, Dietary Iron Intake, and Risk of Cancer
Annals of family medicine, 2005Co-Authors: Arch G. Mainous, James M. Gill, Charles J. EverettAbstract:PURPOSE Transferrin Saturation of more than 60% has been identifi ed as a cancer risk factor. It is unclear whether dietary iron intake increases the risk of cancer among individuals with Transferrin Saturation of less than 60%. The purpose of this study was to examine the association of dietary iron intake and the risk of cancer among adults with increased Transferrin Saturation. METHODS Analysis of a cohort study, the National Health and Nutrition Exami- nation Survey I Epidemiologic Follow-Up Study, was performed. US adults (aged 25 to 74 years at baseline) were followed up from baseline in 1971-1974 to 1992 (N = 6,309). RESULTS A total of 7.3% of the US population had a serum Transferrin Saturation of more than 45% at baseline. Intake of dietary iron was essentially uncorrelated with Transferrin Saturation (r = 0.04). Compared with individuals who had normal serum Transferrin Saturation and low dietary iron intake, individuals whose serum Transferrin Saturation was more than 45% and who had high dietary iron intake also had an increased adjusted relative risk of cancer (2.24; 95% confi dence inter- val (CI), 1.02-4.89). Increased risk was not found for individuals with a Transferrin Saturation of more than 45% but a normal dietary iron intake (hazard ratio, 1.02; 95% CI, 0.69-1.49). Transferrin Saturation levels could be set as low as 41%, and the individuals with high Transferrin Saturation and high dietary iron intake would still have an increased adjusted relative risk of cancer (hazard ratio, 2.00; 95% CI, 1.04-3.82). CONCLUSIONS Among persons with increased Transferrin Saturation, a daily intake of dietary iron more than 18 mg is associated with an increased risk of cancer. Future research might focus on the benefi ts of dietary changes in those individu- als with increased serum Transferrin Saturation.
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cholesterol Transferrin Saturation and the development of dementia and alzheimer s disease results from an 18 year population based cohort
Family Medicine, 2005Co-Authors: Arch G. Mainous, Charles J. Everett, Brian J Wells, Stephanie L Eschenbach, James M. GillAbstract:Background and Objectives: Oxidative stress plays a role in Alzheimer’s disease (AD), and iron and cholesterol together have been linked to oxidative stress. This study examined the relationship between Transferrin Saturation (TS) and cholesterol to see if both are necessary to increase the risk for the subsequent development of AD. Methods: We analyzed data from US adults (ages 40‐74 years at baseline) followed from baseline in 1971‐1974 to 1992 (n=6,558) in the cohort study, the National Health and Nutrition Examination Survey I Epidemiologic Followup Study (NHEFS). Results: The unadjusted relative risk of developing AD when both TS and cholesterol were at the 75th percentile was 3.19 (95% CI, 1.31‐7.75). In adjusted models when only one marker was elevated, there was no significant increased risk for AD. The risk of AD increased as both markers increased. Even at the 85th percentile, individuals had no significant risk of AD when only having elevated cholesterol (>280 mg/dl) but not elevated TS (39.6%). Findings were similar for individuals with elevated TS but not elevated cholesterol. Conclusions: In this population-based cohort, the risk of developing AD when one has both elevated cholesterol and elevated TS is much larger than the risk associated with elevation of either of these factors alone.
Christine E Mclaren - One of the best experts on this subject based on the ideXlab platform.
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elevated Transferrin Saturation health related quality of life and telomere length
Biometals, 2014Co-Authors: Arch G. Mainous, Gordon D Mclaren, Christine E Mclaren, Vanessa A Diaz, Mary M Hulihan, Robert U Wright, Waleed O Twal, Scott W Argraves, Althea M GrantAbstract:We sought to examine the relationship between elevated Transferrin Saturation (TS) and measures of health status (telomere length and patient-reported health-related quality of life) to assess whether elevated TS is associated with negative patient outcomes beyond increased risk for morbidity and mortality, using a cross-sectional analysis of the Hemochromatosis and Iron Overload Screening Study supplemented with assays for leukocyte telomere length in adults ≥25 years old (n = 669). Among individuals with elevated TS (≥45 % for women and ≥50 % for men), who also had a usual source of care, only 5.2 % reported ever being told by a doctor that they had an elevated iron condition. In a fully adjusted general linear regression model controlling for demographic characteristics as well as health conditions associated with iron overload, elevated TS versus non-elevated TS was associated with worse general health status (60.4 vs. 63.8, P < 0.05), mental health status (76.5 vs. 82.2, P < 0.0001) and shorter telomere length (241.4 vs. 261.3, P < 0.05). Increased surveillance of elevated TS may be in order as elevated TS is associated with decreased health status and very few patients with elevated TS are aware of their condition.
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elevated Transferrin Saturation health related quality of life and telomere length
Blood, 2013Co-Authors: Arch G. Mainous, Gordon D Mclaren, Christine E Mclaren, Vanessa A Diaz, Mary M Hulihan, Robert U Wright, Waleed O Twal, Scott W Argraves, Althea M GrantAbstract:Context Increased risk of heart disease, diabetes, dementia, cancer, and death has been found among individuals with elevated Transferrin Saturation (TS). Although TS has been linked to specific diseases, little research has focused on the relationship between elevated TS and current health status. Purpose This study examined the relationship between elevated TS and measures of health status (telomere length and patient-reported health-related quality of life) to assess whether elevated TS is associated with negative patient outcomes beyond increased risk for morbidity and mortality. Methods We conducted an analysis of the Hemochromatosis and Iron Overload Screening (HEIRS) Study supplemented with assays for leukocyte telomere length in adults (>25 years old). The HEIRS Study identified individuals through a multiethnic, multicenter sample of 101,168 US and Canadian adults. Screening was done with serum biochemical tests of iron status and hemochromatosis ( HFE) gene mutation testing. Our sample was comprised of HEIRS subjects with responses on health-related quality of life (general health (GH) and mental health (MH) subscales of the SF-36 Health Survey), and known leukocyte telomere length (n=669). Leukocyte telomere length was assessed through a quantitative PCR-based technique (qPCR). Unadjusted mean values of the general health status subscale, the mental health status subscale and telomere length were compared between groups with elevated TS (>45% for women and >50% for men) versus non-elevated TS ( 60% versus with non-elevated TS (<45% for women and <50% for men). For each of the quantitative outcomes of GH, MH, and telomere length, separate general linear regression models were formed with TS elevation as a dichotomous predictor, controlled for demographic characteristics as well as health conditions associated with iron overload. Results Among individuals with elevated TS (>45% for women and >50% for men), who also had a usual source of care, only 5.2% reported ever being told by a doctor that they had an elevated iron condition. Mean values for GH and MH, and telomere length were significantly lower in those with elevated TS ([Table 1][1]; p 60%) versus non-elevated TS. View this table: Table 1 Comparison of Mean General Health Scores, Mental Health Scores and Telomere Length by Transferrin Saturation Percentage Conclusions Increased surveillance of elevated TS may be in order as elevated TS is associated with decreased health status and very few patients with elevated TS are aware of their condition. Disclosures: No relevant conflicts of interest to declare. [1]: #T1
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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
2012Co-Authors: Christine E Mclaren, Victor R Gordeuk, Paul C. Adams, James C Barton, Ronald T Acton, Mark Speechley, Wen-pin Chen, Oswaldo Castro, Beverly M. Snively, Emily L HarrisAbstract:Bivariate mixture modeling was used to analyze joint population distributions of Transferrin Saturation (TS) and serum ferritin concentration (SF) measured in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Four components (C1, C2, C3, and C4) with successively age-adjusted increasing means for TS and SF were identified in data from 26,832 African Americans, 12,620 Asians, 12,264 Hispanics, and 43,254 whites. The largest component
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initial screening Transferrin Saturation values serum ferritin concentrations and hfe genotypes in native americans and whites in the hemochromatosis and iron overload screening study
Clinical Genetics, 2005Co-Authors: James C Barton, Emily L Harris, Victor R Gordeuk, Paul C. Adams, David M Reboussin, Ronald T Acton, Fitzroy W Dawkins, Christine E Mclaren, Laura C Lovato, Ann P WalkerAbstract:We compared initial screening Transferrin Saturation (TfSat) and serum ferritin (SF) phenotypes and HFE C282Y and H63D genotypes of 645 Native American and 43,453 white Hemochromatosis and Iron Overload Screening Study participants who did not report a previous diagnosis of hemochromatosis or iron overload. Elevated measurements were defined as TfSat >50% in men and >45% in women and SF >300 ng/ml in men and >200 ng/ml in women. Mean TfSat was 31% in Native American men and 32% in white men (p = 0.0337) and 25% in Native American women and 27% in white women (p < 0.0001). Mean SF was 153 microg/l in Native American and 151 microg/l in white men (p = 0.8256); mean SF was 55 microg/l in Native American women and 63 microg/l in white women (p = 0.0015). The C282Y allele frequency was 0.0340 in Native Americans and 0.0683 in whites (p < 0.0001). The H63D allele frequency was 0.1150 in Native Americans and 0.1532 in whites (p = 0.0001). 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.
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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, 2005Co-Authors: James C Barton, Paul C. Adams, David M Reboussin, Ronald T Acton, Catherine Leiendeckerfoster, Fitzroy W Dawkins, Mark Speechley, Christine E Mclaren, Laura C Lovato, Victor R GordeukAbstract:We compared initial screening data of 44,082 white and 27,124 black Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. Each underwent serum Transferrin Saturation (TfSat) and ferritin (SF) measurements without regard to fasting, and HFE C282Y and H63D genotyping. Elevated measurements were defined as: TfSat more than 50% (men), more than 45% (women); and SF more than 300 ng/ml (men), more than 200 ng/ml (women). Mean TfSat and percentages of participants with elevated TfSat were significantly greater in whites than in blacks. Mean SF and percentages of participants with elevated SF were significantly greater in blacks than in whites. TfSat and SF varied by gender and age in whites and blacks. Prevalences of genotypes that included either C282Y or H63D were significantly greater in whites than in blacks. The prevalence of elevated TfSat and SF plus genotypes C282Y/C282Y, C282Y/H63D, or H63D/H63D was 0.006 in whites and 0.0003 in blacks. Among whites with HFE C282Y homozygosity, 76.8% o...
James C Barton - One of the best experts on this subject based on the ideXlab platform.
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iron overload and cirrhosis in referred hfe p c282y homozygotes with normal Transferrin Saturation and elevated serum ferritin
Canadian Liver Journal, 2020Co-Authors: Paul C. Adams, James C BartonAbstract:Background: Elevated Transferrin Saturation (TS) is an imperfect test to identify adults with high-iron gene (HFE) p.C282Y homozygosity or elevated hepatic iron concentration. Methods: We analyzed ...
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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
2012Co-Authors: Christine E Mclaren, Victor R Gordeuk, Paul C. Adams, James C Barton, Ronald T Acton, Mark Speechley, Wen-pin Chen, Oswaldo Castro, Beverly M. Snively, Emily L HarrisAbstract:Bivariate mixture modeling was used to analyze joint population distributions of Transferrin Saturation (TS) and serum ferritin concentration (SF) measured in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Four components (C1, C2, C3, and C4) with successively age-adjusted increasing means for TS and SF were identified in data from 26,832 African Americans, 12,620 Asians, 12,264 Hispanics, and 43,254 whites. The largest component
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a diagnostic approach to hyperferritinemia with a non elevated Transferrin Saturation
Journal of Hepatology, 2011Co-Authors: Paul C. Adams, James C BartonAbstract:Elevated serum ferritin concentrations are common in clinical practice. In this review, we provide an approach to interpreting the serum ferritin elevation in relationship to other clinical parameters including the patient history, Transferrin Saturation, serum concentrations of alanine, and aspartate aminotransferases (ALT, AST), testing for HFE mutations, liver imaging, liver biopsy, and liver iron concentration. We used observations from a large series of patients with hepatic iron overload documented by liver iron concentration measurement from two referral practices as a gold standard to guide the interpretation of the predictive values of non-invasive iron tests. Three case studies illustrate common problems in interpreting iron blood tests.
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biological variability of Transferrin Saturation and unsaturated iron binding capacity
The American Journal of Medicine, 2007Co-Authors: Paul C. Adams, David M Reboussin, Richard D Press, James C Barton, Ronald T Acton, Godfrey C Moses, Catherine Leiendeckerfoster, Gordon D Mclaren, Fitzroy W Dawkins, Victor R GordeukAbstract:Abstract Background Transferrin Saturation is widely considered the preferred screening test for hemochromatosis. 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. Methods The Hemochromatosis and Iron Overload Screening Study screened 101,168 primary care participants for iron overload using Transferrin Saturation, unsaturated iron-binding capacity, ferritin, and HFE C282Y and H63D genotyping. Transferrin Saturation and unsaturated iron-binding capacity were performed at initial screening and again when selected participants and controls returned for a clinical examination several months later. A missed case was defined as a C282Y homozygote who had Transferrin Saturation below the cut point (45% for women, 50% for men) or unsaturated iron-binding capacity above the cut point (150 μmol/L for women, 125 μmol/L for men) at the initial screening or the clinical examination, or both, regardless of serum ferritin. Results There were 209 C282Y previously undiagnosed homozygotes with Transferrin Saturation and unsaturated iron-binding capacity testing performed at the initial screening and clinical examination. Sixty-eight C282Y homozygotes (33%) would have been missed at these Transferrin Saturation cut points (19 men, 49 women; median serum ferritin level of 170 μg/L; first and third quartiles, 50 and 474 μg/L), and 58 homozygotes (28%) would have been missed at the unsaturated iron-binding capacity cut points (20 men, 38 women; median serum ferritin level of 168 μg/L; first and third quartiles, 38 and 454 μg/L). There was no advantage to using fasting samples. Conclusions The within-person biological variability of Transferrin Saturation and unsaturated iron-binding capacity limits their usefulness as an initial screening test for expressing C282Y homozygotes.
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relationships of serum ferritin Transferrin Saturation and hfe mutations and self reported diabetes in the hemochromatosis and iron overload screening heirs study
Diabetes Care, 2006Co-Authors: Ronald T Acton, Paul C. Adams, David M Reboussin, James C Barton, Gordon D Mclaren, Fitzroy W Dawkins, Mark Speechley, Leah Passmore, Phyliss Sholinsky, Emily L HarrisAbstract:OBJECTIVE—We evaluated the associations of self-reported diabetes with serum ferritin concentration, Transferrin Saturation (TfSat), and HFE C282Y and H63D mutations in six racial/ethnic groups recruited at five field centers in the Hemochromatosis and Iron Overload Screening (HEIRS) study. RESEARCH DESIGN AND METHODS—Analyses were conducted on 97,470 participants. Participants who reported a previous diagnosis of diabetes and/or hemochromatosis or iron overload were compared with participants who did not report a previous diagnosis. RESULTS—The overall prevalence of diabetes was 13.8%; the highest prevalence was in Pacific Islanders (20.1%). Of all participants with diabetes, 2.0% reported that they also had hemochromatosis or iron overload. The mean serum ferritin concentration was significantly greater in women with diabetes in all racial/ethnic groups and in Native-American men with diabetes than in those without diabetes. The mean serum ferritin concentration was significantly lower in Asian men with diabetes than in those without diabetes. Mean TfSat was lower in participants with diabetes from all racial/ethnic groups except Native-American women than in those without diabetes. There was no significant association of diabetes with HFE genotype. The mean serum ferritin concentration was greater (P CONCLUSIONS—Serum ferritin concentration is associated with diabetes, even at levels below those typically associated with hemochromatosis or iron overload.