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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. Hyperferritinemia means high ferritin in the blood). Oftentimes the storage protein for iron, ferritin, can reach the eye instead of the mineral itself. A liver biopsy will show that the patient does not have iron overload.



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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 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. 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. 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. In hhcs, components of ferritin accumulate in the eye lens and crystalize disrupting the light transmission which enables a person to see. Serum ferritin : indicates the amount of iron stored in the body, via the protein ferritin. Age-related macular degeneration (AMD) is regarded as the leading cause of vision loss for people over the age. Attachment, posted on Mon, June 20, 2016 by Kayla Wiles. 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.