In this issue of Blood, Andolfo and colleagues show that dehydrated hereditary stomatocytosis (DHSt), an inherited red cell disorder, is associated with a number of distinct germline mutations in PIEZO1, a stretch activated cation channel, in 26 affected individuals from 7 families.The shrinking cell has been an object of curiosity and some bafflement to physiologists and hematologists since it was first seen some 40 years ago. We know that regulation of its volume within narrow limits through a tightly controlled intracellular cation concentration is critical for optimal functioning and survival of the red cell. An autosomal dominant hemolytic anemia characterized by primary red cell dehydration due to decreased cation content was first described by Miller and colleagues in 1971 and is currently designated as hereditary xerocytosis (HX) or DHSt.
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