Hereditary hemochromatosis

Witte, David L.; Crosby, William H.; Edwards, Corwin Q.; Fairbanks, Virgil F.; Mitros, Frank A.

doi:10.1016/0009-8981(95)06212-2

Cited by 304 publications

(81 citation statements)

References 136 publications

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“…8 Altogether, using a variety of strategies to educate physicians should increase early diagnoses of hemochromatosis, improve management, and reduce morbidity and mortality from this common inherited disorder. 6,7,9 …”

Section: Discussionmentioning

confidence: 99%

“…7,8 From computerized lists of the American Medical Association (AMA), 142,318 physicians in these categories were identified. A statistical power calculation revealed that a sample size of 2,500 responders with evaluable questionnaires would constitute a representative sample.…”

Section: Survey Participantsmentioning

confidence: 99%

“…If untreated, iron overload can cause hepatic cirrhosis, primary liver cancer, arthropathy, diabetes mellitus, hypogonadism, cardiomyopathy, and reduced longevity. [5][6][7][8] With early diagnosis and treatment, these complications can be prevented. 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.…”

mentioning

confidence: 99%

“…[5][6][7][8] With early diagnosis and treatment, these complications can be prevented. 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.…”

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confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Survey Participantsmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Survey of physician knowledge about hemochromatosis

Acton

Barton

Casebeer

et al. 2002

Genetics in Medicine

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“…In patients with hereditary hemochromatosis (HH), a serious disorder afflicting approximately 0.5% of the Caucasian population (1), liver iron stores are often more than 10 times that of normal liver (2). The excess iron is primarily in the forms of ferritin and hemosiderin (2), both of which have strong magnetic properties (3,4).…”

mentioning

confidence: 99%

Theory of nonexponential NMR signal decay in liver with iron overload or superparamagnetic iron oxide particles

Jensen

Chandra

2002

Magnetic Resonance in Med

111

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A quantitative theory is proposed for the nonexponential NMR proton signal decay observed in liver with iron overload or superparamagnetic iron oxide particles. This effect occurs for Carr-Purcell-Meiboom-Gill (CPMG) sequences and is argued to be a direct consequence of the strong magnetic field inhomogeneities generated by the iron, rather than being due to tissue compartments. An approximate mathematical form is given for the signal decay, which is fit to experimental data for samples of rat liver with iron oxide particles, for samples of marmoset liver with hemosiderosis, and for in vivo human liver with hereditary hemochromatosis. The fitting parameters obtained are consistent with the pattern of iron deposition determined from histology. For the case of hereditary hemochromatosis, a good correlation is found between a parameter characterizing the nonexponential decay and the iron concentration. Implications for practical MR quantification of hepatic iron are discussed. Magn

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