A survey of 2,851 patients with hemochromatosis:

McDonnell, Sharon M.; Preston, Benjamin L.; Jewell, Sandy; Barton, James C.; Edwards, Corwin Q.; Adams, Paul C.; Yip, Ray

doi:10.1016/s0002-9343(99)00120-5

Cited by 198 publications

(153 citation statements)

References 17 publications

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“…These observations imply that normal or elevated TfSat and SF in some subjects may be insensitive or confounded measures of the availability of iron for hemoglobin synthesis. The prevalence of liver disease, usually hepatic cirrhosis, was much greater in persons with hemochromatosis phenotypes diagnosed in medical care [2,[20][21][22] than the prevalence liver-related abnormalities in the present HEIRS Study participants [6]. In the present C282Y homozygotes, separate analyses of data from women and men, showed that the prevalence of liver-related abnormalities and g-glutamyl transpeptidase were not significant predictors of mean MCV.…”

Section: Discussionmentioning

confidence: 56%

Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study

McLaren

Barton²,

et al. 2007

American J Hematol

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Elevated mean corpuscular volume (MCV) is common in persons with hemochromatosis associated with HFE C282Y homozygosity. We evaluated data from the subset of non-Hispanic white participants in the Hemochromatosis and Iron Overload Screening Study to determine if elevated MCV in C282Y homozygotes is related to this genotype or to serum iron measures. Regression analysis was used to model MCV and Hb from transferrin saturation (TfSat), serum ferritin (SF), mean corpuscular hemoglobin concentration, red blood cell count, age, HFE genotype, Field Center, and presence of liver-related abnormalities in C282Y homozygotes and control subjects without HFE mutations (wt/wt genotype). Mean MCV was higher in C282Y homozygotes than in HFE wt/wt controls (94.4 vs. 89.7 fL in women; 95.3 vs. 91.2 fL in men; P < 0.0001 for both). These differences were largely associated with increased mean TfSat and SF in C282Y homozygotes. Adjusted mean MCV was 92.0 fL (95% confidence interval, 91.1, 92.9) in female C282Y homozygotes and 90.9 fL (90.3, 91.5) in controls. Among women with SF in the reference range 20-200 lg/L, adjusted mean MCV was 92.9 fL, (91.7, 94.2) in C282Y homozygotes, 1.8 fL higher than in controls (P 5 0.013). The adjusted mean MCV of male C282Y homozygotes and controls was similar (P 5 0.30). Adjusted mean Hb was 0.2 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. Am. J. Hematol. 82:898-905, 2007. V V C 2007 Wiley-Liss, Inc. IntroductionElevated values of mean corpuscular volume (MCV) are common in persons with hemochromatosis. In early series of hemochromatosis cases, this was attributed to hepatic cirrhosis [1], a then-current diagnostic criterion of hemochromatosis and a common sequel of severe iron overload [1,2]. In Alabama hemochromatosis probands diagnosed in medical care, mean MCV and hemoglobin concentration (Hb) were significantly greater in HFE C282Y homozygotes than in probands with other HFE genotypes or in control subjects, and 44% of all probands had prephlebotomy values of MCV greater than the upper reference limit [3]. Further, there was a significant positive association of MCV in HFE C282Y homozygotes with serum transferrin saturation (TfSat) at diagnosis and with quantities of iron removed by phlebotomy to achieve iron depletion, but not with the presence of human leukocyte antigen-A*03 [3]. In a southern California hemochromatosis screening program that evaluated persons who attended a health appraisal clinic, mean TfSat, mean serum ferritin concentration (SF), mean MCV, and mean Hb were higher than the corresponding measures in participants without common HFE mutations [4].

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Section: Discussionmentioning

confidence: 56%

Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study

McLaren

Barton²,

et al. 2007

American J Hematol

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“…27,28 Many physicians have inadequate knowledge about H/IO, fail to obtain adequate family history of disease information, 29 and misdiagnose or delay diagnosis of H/IO. 30 Greater awareness of hemochromatosis and iron overload among patients and physicians and the use of family history of disease information could help identify high-risk individuals who would benefit from preventive interventions.…”

Section: Discussionmentioning

confidence: 99%

Accuracy of Family History of Hemochromatosis or Iron Overload: The Hemochromatosis and Iron Overload Screening Study

Acton

Barton²,

Passmore

et al. 2008

Clinical Gastroenterology and Hepatology

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“…7,9 Nonetheless, many physicians report that they have not diagnosed or treated persons with hemochromatosis, 8 and patients with hemochromatosis commonly report delayed diagnosis and treatment of their iron overload and associated disorders. 10 The rapid increase in understanding of the molecular basis of heritable disorders and availability of genetic testing has created complex issues and opportunities regarding the appropriate application of genetic testing, interpretation of test results, and implications for preventive or corrective management interventions. 11 Thus it is important that health care providers become familiar with the general benefits and limitations of genetic testing in medical practice and make informed decisions about diagnosis and treatment of heritable disorders.…”

mentioning

confidence: 99%

Survey of physician knowledge about hemochromatosis

Acton

Barton

Casebeer

et al. 2002

Genetics in Medicine

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Purpose: To survey physicians about knowledge of hemochromatosis. Methods: A questionnaire was faxed to American physicians. Results: A total of 2,563 evaluable responses were obtained. There were Ն 70% correct responses about at-risk population, associated abnormalities, and population screening. There were 32% and 53% correct answers about diagnosis and treatment, respectively. A total of 8.0% and 4.9% reported asking Ͼ75% of patients about family history of hemochromatosis and iron overload, respectively. Less than 25% requested HFE mutation analysis in the previous year. Correct answers were associated with academic practice, internal medicine specialty, and medical school graduation within 10 years.

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A survey of 2,851 patients with hemochromatosis:

Cited by 198 publications

References 17 publications

Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study

Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study

Accuracy of Family History of Hemochromatosis or Iron Overload: The Hemochromatosis and Iron Overload Screening Study

Survey of physician knowledge about hemochromatosis

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