Hereditary Hemochromatosis



Hereditary Hemochromatosis


Matthew M. Yeh, MD, PhD









Coarse and refractile iron granules image are readily discernible within the hepatocytes and bile duct epithelium in a case of hereditary hemochromatosis.






The iron deposition is confirmed by a Perl iron stain.


TERMINOLOGY


Abbreviations



  • Hereditary hemochromatosis (HH)


Definitions



  • Disorder of iron metabolism inherited as autosomal recessive trait


ETIOLOGY/PATHOGENESIS


Genetic Mutations



  • 2 most common mutations are in HFE gene



    • C282Y


    • H63D


  • Non-HFE mutations also occur


CLINICAL ISSUES


Epidemiology

Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Hereditary Hemochromatosis
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