Article
Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child.
European journal of medical genetics - 1 Jun 2020
Gurlek Gokcebay Dilek, Akpinar Tekgunduz Sibel, Cavdarli Busranur
Abstract excerpt
Imerslund-Gräsbeck Syndrome is a rare autosomal recessive disorder characterized by proteinuria and selective malabsorption of cobalamin. Deficiency of cobalamin can lead to megaloblastic anemia, pancytopenia and even "pseudo"-thrombotic microangiopathy (TMA). Signs of mechanical hemolysis on peripheral blood smear, elevated lactate dehydrogenase and thrombocytopenia are common findings of TMA. We report a child...
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