Question: How many people are affected by hyperferritinemia-cataract syndrome ?
Answer: Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals.
Source: GHR

Question: What are the genetic changes related to hyperferritinemia-cataract syndrome ?
Answer: 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. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms inside its spherical structure. This storage capacity allows ferritin to regulate the amount of iron in cells and tissues. The mutations that cause hyperferritinemia-cataract syndrome are found in a segment of the gene called the iron responsive element (IRE). The IRE normally can attach (bind) to a protein called the iron regulatory protein (IRP). When this binding occurs, the activity (expression) of the FTL gene is stopped to prevent too much ferritin light chain from being produced. This normally occurs when iron levels are low, because under those circumstances less ferritin is needed to store the iron. Mutations in the IRE segment of the FTL gene prevent it from binding with IRP, interfering with the mechanism by which ferritin production is matched to iron levels and resulting in excess ferritin being formed.
Source: GHR

Question: Is hyperferritinemia-cataract syndrome inherited ?
Answer: 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.
Source: GHR

Question: What are the treatments for hyperferritinemia-cataract syndrome ?
Answer: These resources address the diagnosis or management of hyperferritinemia-cataract syndrome: - Boston Children's Hospital: Cataracts in Children - Genetic Testing Registry: Hyperferritinemia cataract syndrome - MedlinePlus Encyclopedia: Cataract Removal These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR