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  • Title: [Isolated hyperferritinemia in a healthy male infant: hereditary hyperferritinemia-cataract syndrome].
    Author: Cervera Bravo A, Sebastían Planas M, Alarabe Alarabe A, Díez Sáenz A, Avilés Egea MJ, Balas Pérez A.
    Journal: An Esp Pediatr; 2000 Mar; 52(3):267-70. PubMed ID: 11003906.
    Abstract:
    The case of a male infant who was found to have hyperferritinemia was made at the age of 3 months is described. The patient and several members of his family from three generations were diagnosed with hereditary hyperferritinemia-cataract syndrome with a new point mutation in the iron-responsive element of the L-ferritin gene. Differential diagnosis of hyperferritinemia is discussed with emphasis on the need for the knowledge of this entity to avoid unnecessary investigations.
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