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International Journal of Advances In Case Reports

Volume 11, Issue 1, 2024
Mcmed International
International Journal of Advances In Case Reports
Issn
XXX-XXXX (Print), 2349 - 8005 (Online)
Frequency
bi-annual
Email
editorijacr@mcmed.us
Journal Home page
http://mcmed.us/about/ijacr
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Abstract
Title
HEMOCHROMATOSIS - THE MASKED CULPRIT
Author
Kavita Krishna1, Tushar Patil2, Bhushan Rathi3, Gagan N. Jain3, Priscilla Joshi4
Email
kavitakrishna2006@gmail.com
keyword
Hemochromatosis, Genetic disorder, Phenotypic manifestations etc.,
Abstract
HH is one of the few genetic disorders in which phenotypic manifestations (organ damage) is delayed to adult life. However, sensitive and specific phenotypic and genotypic testing now allows diagnosis of HH while it is still a disorder of iron metabolism and before it results in end-organ damage. Our case study deals with a similar situation in which the disease exhibits itself in the individual as an unexplained liver and endocrine dysfunction. We have discussed the practical clinical approach, preemptive diagnostic approach whereby early identification of individuals at risk and initiation of life-saving phlebotomy therapy in the pre-symptomatic stage of the disorder are facilitated.
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