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Last Posted: Nov 14, 2022
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Diagnosis and Management of Hereditary Hemochromatosis.
Cabrera Elizabeth et al. JAMA 2022 11 (18) 1862-1863

Hereditary hemochromatosis (HH) is a heterogeneous genetic disorder that results in unregulated and excessive intestinal iron absorption leading to overabundance of iron deposition in tissue. HH is most common in people of northern European ancestry, for whom the prevalence is 1 case per 300 people. HH can be diagnosed using homeostatic iron regulator gene (HFE) testing in patients with biochemical or clinical iron overload. Phlebotomy is first-line therapy for HH and substantially lowers risk of morbidity and mortality.

Association of Genetic Variant Linked to Hemochromatosis With Brain Magnetic Resonance Imaging Measures of Iron and Movement Disorders.
Loughnan Robert et al. JAMA neurology 2022 8

In this cross-sectional study that included 836 participants, we found that individuals at high genetic risk for developing hemochromatosis had magnetic resonance imaging scans indicating substantial iron deposition localized to motor circuits of the brain. Further analysis of data for 488?288 individuals revealed that male individuals with high genetic risk for hemochromatosis (but not female individuals) were at 1.80-fold increased risk for developing a movement disorder, with the majority of these individuals not having a concurrent diagnosis for hemochromatosis.


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