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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 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. Deferiprone can protect the retinas of mice by entering the retina and removing iron from it, said

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Dunaief, whose lab is currently testing additional drugs to prevent iron accumulation in the eye. People with hhcs typically have normal tibc and TS test results but elevated serum ferritin levels (. An ophthalmologist confirms diagnosis of hhcs. Iron contributes to the leading causes of vision loss. 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. A liver biopsy will show that the patient does not have iron overload.

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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. Serum ferritin : indicates the amount of iron stored in the body, via the protein ferritin. This means that ferritin is constantly being made no matter whether iron levels are high or low. 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. Iron is a necessary mineral for many of the bodys functions, including vision. Iron chelation therapy is the removal of excess iron from the body with special drugs. But how can the bodys storage sites for iron be full without iron overflowing into other organs?

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Joshua Dunaief, professor of ophthalmology at the University of Pennsylvania School of Medicine. 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. 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. Age-related macular degeneration (AMD) is regarded as the leading cause of vision loss for people over the age. 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.