Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome
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W.B. Saunders
Abstract
The authors present a unique case of torsades de pointes in a b-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 the KCNQ1 gene mutation leads to prolongation of QTc and torsades de pointes. © 2016 Elsevier Inc.
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Keywords
Iron overload, Long qt, Β-thalassemia, Adult, Beta-thalassemia, Female, Humans, Kcnq1 potassium channel, Long qt syndrome, Mutation, Torsades de pointes, Young adult, Beta adrenergic receptor blocking agent, Deferiprone, Ferritin, Kcnq1 protein, human, Potassium channel kcnq1, Beta thalassemia, Blood transfusion, Case report, Defibrillator, Electrocardiogram, Ferritin blood level, Genetic screening, Human, Monitoring, Nuclear magnetic resonance imaging, Point mutation, Priority journal, Qtc interval, Review, T wave, Torsade des pointes, Complication, Genetics