A point mutation in the iron-responsive element of the L-ferritin gene (Part 1)

cataract syndromeHereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder that was first described in 1995 independently by Bonneau et al and Girelli et al. It is characterized by early-onset bilateral cataracts and high serum ferritin levels in the absence of iron overload. Iron studies are otherwise normal, with normal to low serum iron and transferrin saturation. Because of the assumption of iron overload, these patients are often mistakenly treated with repeat phlebotomies, resulting in iron deficiency anemia. The cataracts in this syndrome have a distinct morphology typified by slowly progressive cystic flecks with crystalline deposits in the lens cortex and nucleus that may be pathognomonic for HHCS . The prevalence of this syndrome is not known, but a research group in Australia estimated that there is a prevalence of at least one in 200,000 in southeastern Australia. Mutations in the iron-responsive element (IRE) of the L-ferritin gene located on chromosome 19q13.33-13.4 is the molecular basis of this genetic disorder. The IRE is a stem-loop structure located in the 5′ noncoding region of the L-ferritin messenger RNA (mRNA). If your health problem is affecting the quality of your life, you should consider shopping for your medications with my canadian pharmacy that will help you make sure the right treatment is found, not costing too much money.

Category: L-ferritin gene

Tags: Cataracts, Hyperferritinemia, Iron-responsive element, L-ferritin

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