Diagnosis and Management of Hereditary Hemochromatosis

Cabrera, Elizabeth F.; Crespo, Gonzalo; VanWagner, Lisa B.

doi:10.1001/jama.2022.17727

Cited by 5 publications

(1 citation statement)

References 9 publications

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“…Given the strong genetic etiology, genetic profiling is available which will test for the various genes that can cause hemochromatosis. Lastly, imaging, such as a CT or an MRI, can be utilized for determining degrees of pathology and the effects of iron overload [13,23,24].…”

Section: Diagnosis Of Hereditary Hemochromatosismentioning

confidence: 99%

Diagnosis and Current Treatment Strategies for Adult and Juvenile Hereditary Hemochromatosis

Tyler,

Wiggins-McDaniel,

McBroom

et al. 2024

BJI

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Hemochromatosis is a common genetic disorder manifesting as an iron overload state requiring complex processes in diagnosis, treatment, and management of both adult, and pediatric, populations. This review outlines general diagnostic and treatment strategies for hemochromatosis detailing fundamental processes in iron excess, or iron overload, through physiologic function and associated pathological effects. Genetic mutations, as ascribed to hemochromatosis, have significant impact in producing pathophysiology. Understanding basic pathophysiological mechanisms can inform future diagnosis and treatment through advances such as erythrocytophoresis. Linking concepts related to the diagnosis, treatment, and management of adult and juvenile hereditary hemochromatosis with scientific advances may enlighten clinical medicine and future hemochromatosis therapy.

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Section: Diagnosis Of Hereditary Hemochromatosismentioning

confidence: 99%

Diagnosis and Current Treatment Strategies for Adult and Juvenile Hereditary Hemochromatosis

Tyler,

Wiggins-McDaniel,

McBroom

et al. 2024

BJI

View full text Add to dashboard Cite

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Risk of transfusion‐related iron overload varies based on oncologic diagnosis and associated treatment: Retrospective analysis from a single pediatric cancer center

Winzent‐Oonk,

Staley,

Alami

et al. 2024

Pediatric Blood & Cancer

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BackgroundTransfusion‐related iron overload (TRIO) is a widely acknowledged late effect of antineoplastic therapy in pediatric cancer survivors, but firm guidelines as to screening protocols or at‐risk populations are lacking in the literature.ProcedureWe performed retrospective analysis of all oncology patients diagnosed at our center from 2014 to 2019, who underwent TRIO screening as part of an internal quality improvement project. Correlations of MRI‐confirmed TRIO with patient‐, disease‐, and treatment‐specific features were evaluated.ResultsWe show that a tiered screening algorithm for TRIO, when followed as intended, led to the identification of the highest proportion of patients with TRIO. We confirm that cardiac TRIO is quite rare in the oncology patient population. However, accepted surrogate markers including red blood cell transfused volume and ferritin only modestly correlated with TRIO in our patient cohort. Instead, we found that older age, leukemia diagnosis, anthracycline exposure, and receipt of stem cell transplant were most strongly associated with risk for TRIO.ConclusionsWe describe associations between TRIO and patient, disease, and treatment characteristics in a multivariate risk model that could lead to an improved risk stratification of off‐therapy patients, and which should be validated in a prospective manner.

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Clinical and genetic predictors of cardiac dysfunction assessed by echocardiography in patients with hereditary hemochromatosis

Cortés,

Elsayed,

Stancampiano

et al. 2023

Int J Cardiovasc Imaging

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Diagnosis and Management of Hereditary Hemochromatosis

Abstract: 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.

Cited by 5 publications

References 9 publications

Diagnosis and Current Treatment Strategies for Adult and Juvenile Hereditary Hemochromatosis

Diagnosis and Current Treatment Strategies for Adult and Juvenile Hereditary Hemochromatosis

Risk of transfusion‐related iron overload varies based on oncologic diagnosis and associated treatment: Retrospective analysis from a single pediatric cancer center

Clinical and genetic predictors of cardiac dysfunction assessed by echocardiography in patients with hereditary hemochromatosis

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