Acute Wilson Disease Associated With E β-thalassemia

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Abstract

We report on an 11-year-old girl with concomitant Eβ thalassemia (EβT) and Wilson disease (WD). She was diagnosed with EβT at 2 years of age, but the coexistence of WD could only be established at 11 years. The diagnosis of the later was based on the clinical presentation of hepatitis and severe Coomb's negative hemolytic anemia, coupled with laboratory evidence of WD. To our knowledge, this is the first report on the cooccurrence of EβT and WD. As both the conditions are associated with variable degrees of hemolysis, WD in the setting of EβT may remain masked and consequently remain undiagnosed for a long time. Sudden, severe hemolysis in a patient of thalassemia may be explained by the coexistence of additional pathology, in this case WD.

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