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This means that ferritin is constantly being made no matter whether iron levels are high or low. The answer is that a genetic mutation has turned off the bodys ability to make ferritin in response to changing iron levels. 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. 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. People with hhcs typically have normal tibc and TS test results but elevated serum ferritin levels (. 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.


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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. A liver biopsy will show that the patient does not have iron overload. Right now, the only known treatment for hhcs is cataract surgery. Age-related macular degeneration (AMD) is regarded as the leading cause of vision loss for people over the age. Iron accumulates in the body with age because we continue to absorb it from our diets, but we excrete very little, Dunaief said. Hyperferritinemia means high ferritin in the blood). 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. Serum ferritin : indicates the amount of iron stored in the body, via the protein ferritin. An ophthalmologist confirms diagnosis of hhcs. Attachment, posted on Mon, June 20, 2016 by Kayla Wiles.