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. 2022 Nov 8;328(18):1862-1863.
doi: 10.1001/jama.2022.17727.

Diagnosis and Management of Hereditary Hemochromatosis

Elizabeth Cabrera  1 , Gonzalo Crespo  2 , Lisa B VanWagner  3
Affiliations

Diagnosis and Management of Hereditary Hemochromatosis

Elizabeth Cabrera et al. JAMA. .
No abstract available

Plain language summary

This JAMA Insights Clinical Review discusses the diagnosis and management of hereditary hemochromatosis, including clinical and laboratory characteristics, gene testing and interpretation, and the role of imaging and liver biopsy.

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Conflict of interest statement

Conflict of Interest Disclosures: Dr VanWagner reported receiving investigator-initiated grant support from W.L. Gore & Associates and grants from Intercept Pharmaceuticals, Enanta Pharmaceuticals, Madrigal Pharmaceuticals, and AMRA Medical; consulting for Noble Insights and Gerson Lehrman Group; and serving as an expert witness outside the submitted work. No other disclosures were reported.

Figures

Figure.
Figure.. Proposed Diagnostic Algorithm for Assessment of Hereditary Hemochromatosis in Adults
This algorithm has not been validated for use in clinical practice. TSAT indicates transferrin saturation.
See this image and copyright information in PMC

Summary for patients in

References

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    1. Atkins JL, Pilling LC, Masoli JAH, et al. Association of hemochromatosis HFE p.C282Y homozygosity with hepatic malignancy. JAMA. 2020;324(20):2048–2057. - PMC - PubMed
    1. Kane SF, Roberts C, Paulus R. Hereditary hemochromatosis: rapid evidence review. Am Fam Physician. 2021;104(3):263–270. - PubMed
    1. Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54(1):328–343. - PMC - PubMed
    1. Kawabata H The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. Int J Hematol. 2018;107(1):31–43. doi:10.1007/s12185-017-2365-3 - DOI - PubMed

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