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IMPPC Researcher Participates in Hemochromotosis Day Workshop


The IMPPC researcher Mayka Sanchez organized and participated in a workshop to highlight awareness of aspects of high ferritin levels in the blood on National and European Hemochromatosis Day, 7 June 2013.

The workshop "Hyperferritinemia: Dialogues about current clinical practice" at the Hospital de l'Esperit Sant in Santa Coloma de Gramenet, Barcelona included doctors, patients and researchers. The formal talks were followed by a more relaxed program,which allowed professionals and patients to share their experiences.

Ferritin is a protein involved in cellular iron storage, as well as, an inflammation marker. An excess of ferritin can lead to several acquired and genetic pathologies including metabolic syndrome, inflammation, hepatopathies, hereditary hyperferritinemia with cataracts, hereditary hemochromatosis and some hereditary iron-loaded anemias.

Hereditary Hyperferritinemia Cataract Syndrome is an inherited condition and patients show high levels of ferritin but no iron overload. The genetic mutation responsible must be identified to avoid confusing it with Hereditary Hemochromatosis. Dr. Mayka Sanchez leads the Advanced Genetic Diagnostic Unit for Rare Iron Metabolism Disorders at IMPPC and oversees its two primary functions of diagnostics and research. The unit offers testing for several hereditary blood disorders, including those used to differentiate between Hereditary Hyperferritinemia Cataract Syndrome and Hereditary Hemochromatosis. It also carries out research to improve diagnostics and treatments of these and other inherited blood iron disorders.

The workshop explored various aspects of diagnostics and treatment for patients with high ferritin levels; Dr Sanchez gave a detailed account of the genetic testing required to identify the underlying disease in genetic hyperferritinemias.
 

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