THE HAGUE, Netherlands, June 11, 2021 /PRNewswire/ -- The iron overload disorder hereditary hemochromatosis is the most common genetic disorder in the Caucasian population. If untreated, iron overload causes progressive organ damage in ageing patients, including heart failure, diabetes, liver cirrhosis and cancer. In addition to the frequent
Taken together, our results identify a novel form of juvenile hereditary hemochromatosis and its molecular mechanism by demonstrating that the function of two GPI-anchored proteins involved in maintaining iron homeostasis, hemojuvelin and ceruloplasmin, is impaired by PIGA mutations. This new link advocates for the need for clinical assessment of potential iron overload in patients with germline PIGA mutations.
The results of this study will be presented by Dr. Oriana Marques in the Presidential Symposium.
Presenter: Dr. Oriana Marques
Affiliation: Universitätsklinikum Heidelberg, Heidelberg, Germany
Abstract: #S100 PIGA GERMLINE MUTATIONS CAUSE DECREASED HEPCIDIN EXPRESSION AND A NOVEL SUBTYPE OF HEREDITARY HEMOCHROMATOSIS
About the EHA Annual Congress: Every June, EHA organizes its Annual Congress in a major European city. This year, due to the persisting COVID19 pandemic, EHA organizes a virtual Congress for the second time. The Congress is aimed at health professionals working in or interested in the field of hematology.
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