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Attachment, posted on Mon, June 20, 2016 by Kayla Wiles. Hyperferritinemia means high ferritin in the blood). An ophthalmologist confirms diagnosis of hhcs. The answer is that a genetic mutation has turned off the bodys ability to make ferritin in response to changing iron levels. This means that ferritin is constantly being made no matter whether iron levels are high or low. Serum ferritin : indicates the amount of iron stored in the body, via the protein ferritin. Home / Iron Blog, iron contributes to the leading causes of vision loss. 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. Right now, the only known treatment for hhcs is cataract surgery. 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. In hhcs, components of ferritin accumulate in the eye lens and crystalize disrupting the light transmission which enables a person to see. Oftentimes the storage protein for iron, ferritin, can reach the eye instead of the mineral itself. Joshua Dunaief, professor of ophthalmology at the University of Pennsylvania School of Medicine.

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A liver biopsy will show that the patient does not have iron overload. While smoking, poor diet, and lack of exercise typically contribute to oxidation of the retina, research has found that iron may also increase a persons risk of AMD, according. 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. Iron is a necessary mineral for many of the bodys functions, including vision. People with hhcs typically have normal tibc and TS test results but elevated serum ferritin levels (. 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. Iron chelation therapy is the removal of excess iron from the body with special drugs. Iron accumulates in the body with age because we continue to absorb it from our diets, but we excrete very little, Dunaief said. 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. 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. The result is hereditary hyperferritinemia cataract syndrome (hhcs an inherited condition of early-onset cataracts which could be dangerously confused with hemochromatosis (iron overload) unless a person is diagnosed using the full iron panel : Hemoglobin : the iron-containing protein in the blood that carries iron. Iron may accumulate to even higher levels in diseased retinas because low oxygen levels (hypoxia) or inflammation can cause cells to retain iron. Iron contributes to the leading causes of vision loss.

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