Review and actualizations of Molecular Genetic Diagnosis, Symptoms, and diagnostic strategies of Hereditary Hemochromatosis

نویسندگان

  • Silvia Izquierdo Álvarez
  • Eloísa Urrechaga Igartua
  • Jesús Fernando Escanero Marcén
چکیده

The hemochromatosis term was originally used by von Recklinghausen in 1889 to describe tissue injury caused by iron overload. A current definition of hemochromatosis describes it as an inherited disorder of iron metabolism, characterized by inappropriately high absorption of iron by the gastrointestinal mucosa, leading to excessive storage of iron (particularly in the liver, skin, pancreas, heart, joints and testes) and ultimately resulting in impaired organ structure and function [1,2].

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تاریخ انتشار 2013