Learn About Hyperferritinemia-Cataract Syndrome

What is the definition of Hyperferritinemia-Cataract Syndrome?

Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light.

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What are the causes of Hyperferritinemia-Cataract Syndrome?

Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of the ferritin light chain and another subunit called the ferritin heavy chain, which is produced from another gene. The proportion of the two subunits varies in different tissues.

How prevalent is Hyperferritinemia-Cataract Syndrome?

Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals.

Is Hyperferritinemia-Cataract Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Who are the top Hyperferritinemia-Cataract Syndrome Local Doctors?
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European Hematology Association

NL 

Martina Muckenthaler is in Netherlands. Muckenthaler is rated as a Distinguished expert by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Hemochromatosis, Hyperferritinemia-Cataract Syndrome, Childhood Iron Deficiency Anemia, and Anemia.

Distinguished
Highly rated in
3
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Universitat Internacional De Catalunya

Iron Metabolism, Regulation And Diseases, Department Of Basic Sciences 
Sant Cugat Del Valles, CT, ES 08195

Mayka Sanchez is in Sant Cugat Del Valles, Spain. Sanchez is rated as a Distinguished expert by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Hyperferritinemia-Cataract Syndrome, Hemochromatosis, Congenital Cataract, and Erythropoietic Protoporphyria.

 
 
 
 
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Distinguished
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Flinders University

Eye And Vision Research, Flinders Health And Medical Research Institute, Flinders University 
Adelaide, SA, AU 

Jamie Craig is in Adelaide, Australia. Craig is rated as a Distinguished expert by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. They are also highly rated in 23 other conditions, according to our data. Their top areas of expertise are Glaucoma, Pigment-Dispersion Syndrome, Axenfeld-Rieger Syndrome, and Hyperferritinemia-Cataract Syndrome.

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Who are the sources who wrote this article ?

Published Date: August 01, 2012Published By: National Institutes of Health

What are the Latest Advances for Hyperferritinemia-Cataract Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.