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. 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. Normally the RPE has ways
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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 answer is that a genetic mutation has turned off the bodys ability to make ferritin in response to changing iron levels. Home / Iron Blog, iron contributes to the leading causes of vision loss. 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). An ophthalmologist confirms diagnosis of hhcs.
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. This means that ferritin is constantly being made no matter whether iron levels are high or low. 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. Joshua Dunaief, professor of ophthalmology at the University of Pennsylvania School of Medicine. Attachment, posted on Mon, June 20, 2016 by Kayla Wiles. Right now, the only known treatment for hhcs is cataract surgery. 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. But how can the bodys storage sites for iron be full without iron overflowing into other organs?
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