Article
Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319.
British journal of haematology - 1 Jul 2001
Prella M, Baccalà R, Horisberger J D, Belin D, Di Raimondo F, Invernizzi R, Garozzo R, Schapira M
Abstract excerpt
We describe a 19-year-old woman with haemolytic anaemia and thrombocytopenia as the initial manifestation of Wilson disease (WD). There are two reasons for reporting such an improbable case. First, it emphasizes the importance of recognizing atypical clinical presentations of potentially lethal recessive traits for which therapy is available. Second, it shows that, even in a monogenic disorder like WD, the...
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