Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M

Hereditary xerocytosis (HX) is an autosomal dominant hemolytic anemia characterized by red blood cells (RBC) with elevated mean corpuscular hemoglobin concentration (MCHC), osmotic resistance and occasional stomatocytes, and variably associated with systemic iron overload, pseudohyperkalemia, and transient neonatal edema.1 HX is caused by missense mutations in mechanosensitive cation channel gene PIEZO1 or Ca2+-gated K+ channel (Gardos channel)...