SNP Shot: Genomic Insights

Hyperferritinemia-cataract syndrome is characterized by elevated ferritin levels in the blood and body (hyperferritinemia), alongside the development of cataracts. Ferritin, a protein that stores iron, accumulates from an early age, leading to these cataracts, which are opacities of the eye's lenses. These cataracts differ from typical age-related cataracts, which occur later in life; individuals with this syndrome typically develop cataracts in infancy. If untreated surgically, these cataracts progressively worsen vision, causing a gradual reduction in clarity and blurred vision as light transmission through the clouded lenses is obstructed.

Although the elevated ferritin (hyperferritinemia) primarily causes cataracts in this syndrome and is usually not associated with other health problems, it can be mistaken for iron overload caused by certain liver diseases. These liver conditions are sometimes treated with phlebotomy to lower iron levels. However, individuals with hyperferritinemia-cataract syndrome do not have iron overload. Repeated phlebotomy in these individuals can induce iron deficiency, potentially leading to anemia (low red blood cell count). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is vital to avoid unnecessary treatments like phlebotomy or invasive tests like liver biopsies.

Inheritance:

The condition follows an autosomal dominant inheritance pattern. This indicates that only one copy of the altered gene in each cell is sufficient to cause the syndrome.