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Article

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)

15 Jul 2015

Abstract excerpt

Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and often compensated hemolysis. Affected red cells are characterized by a nonspecific cation leak of the red cell membrane, reflected in elevated sodium content, decreased potassium content, elevated MCHC and MCV, and decreased osmotic fragility. The majority of symptomatic DHSt cases...

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PMID: 26178367
DOI: 10.1002/ajh.24117

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