Article
Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.
European journal of haematology - 1 Oct 2018
Orvain Corentin, Da Costa Lydie, Van Wijk Richard, Pissard Serge, Picard Véronique, Mansour-Hendili Lamisse, Cunat Séverine, Giansily-Blaizot Muriel, Cartron Guillaume, Schved Jean-François, Aguilar-Martinez Patricia
Abstract excerpt
Severe iron overload is frequent in dehydrated hereditary stomatocytosis (DHSt) despite well-compensated hemolysis and no or little transfusion requirement. We investigated 4 patients with proven DHSt, in whom the degree of hemolysis was closely related to iron status. Genetic modifiers increasing iron stores (HFE:pCys282Tyr, HAMP:c-153C>T mutations) were accompanied with high liver iron concentrations and...
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