Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome.

Abstract excerpt

The authors present a unique case of torsades de pointes in a β-thalassemia patient with early iron overload in the absence of any structural abnormalities as seen in hemochromatosis. Genetic testing showed a novel KCNQ1 gene mutation 1591C>T [Gln531Ter(X)]. Testing of the gene mutation in Xenopus laevis oocytes showed loss of function of the IKs current. The authors hypothesize that iron overload combined with...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to beta-Thalassemia
• Share to KCNQ1 gene