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. 2010 Mar 18;464(7287):405-8.
doi: 10.1038/nature08825. Epub 2010 Feb 21.

ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C

Jacques Fellay  1 , Alexander J Thompson, Dongliang Ge, Curtis E Gumbs, Thomas J Urban, Kevin V Shianna, Latasha D Little, Ping Qiu, Arthur H Bertelsen, Mark Watson, Amelia Warner, Andrew J Muir, Clifford Brass, Janice Albrecht, Mark Sulkowski, John G McHutchison, David B Goldstein
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ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C

Jacques Fellay et al. Nature. .

Abstract

Chronic infection with the hepatitis C virus (HCV) affects 170 million people worldwide and is an important cause of liver-related morbidity and mortality. The standard of care therapy combines pegylated interferon (pegIFN) alpha and ribavirin (RBV), and is associated with a range of treatment-limiting adverse effects. One of the most important of these is RBV-induced haemolytic anaemia, which affects most patients and is severe enough to require dose modification in up to 15% of patients. Here we show that genetic variants leading to inosine triphosphatase deficiency, a condition not thought to be clinically important, protect against haemolytic anaemia in hepatitis-C-infected patients receiving RBV.

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