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People with hhcs typically have normal tibc and TS test results but elevated serum ferritin levels (. Transferrin-iron saturation percentage (TS) : a measure of iron carried by the protein transferrin in the serum; represented by fasting serum iron divided by total iron binding capacity (tibc multiplied by 100. If an hhcs patient is falsely diagnosed with hemochromatosis, phlebotomies used to remove excess iron from the body could make the person become iron deficient. Iron

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accumulates in the body with age because we continue to absorb it from our diets, but we excrete very little, Dunaief said. Attachment, posted on Mon, June 20, 2016 by Kayla Wiles. Dunaiefs research has shown that the oral iron chelator deferiprone may be a possible treatment for AMD if iron accumulation was one of the causes for its development. The macula, a small portion of the retina which is responsible for sharp and detailed vision, deteriorates over time when the retinal pigment epithelium (RPE) surrounding the macula oxidizes triggering an inflammatory response.

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The answer is that a genetic mutation has turned off the bodys ability to make ferritin in response to changing iron levels. Serum ferritin : indicates the amount of iron stored in the body, via the protein ferritin. Oftentimes the storage protein for iron, ferritin, can reach the eye instead of the mineral itself. Iron is a necessary mineral for many of the bodys functions, including vision. Deferiprone can protect the retinas of mice by entering the retina and removing iron from it, said Dunaief, whose lab is currently testing additional drugs to prevent iron accumulation in the eye. Right now, the only known treatment for hhcs is cataract surgery. Hyperferritinemia means high ferritin in the blood).


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  • Iron is a necessary mineral for many of the bodys functions, including vision.


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But too much iron or problems with utilizing, storing, or transporting iron properly can lead to vision loss in the form of conditions such as age-related macular degeneration and hyperferritinemia syndrome, according to recent research findings. A liver biopsy will show that the patient does not have iron overload. An ophthalmologist confirms diagnosis of hhcs. Age-related macular degeneration (AMD) is regarded as the leading cause of vision loss for people over the age. Normally the RPE has ways to prevent iron from entering the retina when iron levels are high, but if iron export from cells is unregulated, iron may accumulate in the eye and degrade the macula. In hhcs, components of ferritin accumulate in the eye lens and crystalize disrupting the light transmission which enables a person to see.

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