Article

PIEZO1-related Hereditary Xerocytosis in a boy with cardiac arrhythmia

2023-09-20

Abstract excerpt

Hematological evaluation to explain indirect hyperbilirubinemia in a boy with cardiac arrhythmia showed the presence of PIEZO1-related hereditary xerocytosis (HX) [c.6008C>A (p.Ala2003Asp) variant] presenting with compensated hemolytic anemia and splenomegaly. PIEZO1 expression is not limited to erythrocytes and can also be found in other types of cells. It has been shown very recently that PIEZO1 is expressed in...

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Literature Corpus work: fb544eea-5fb9-560e-89b0-f2cbc9ff5fb3
DOI: 10.22541/au.169520973.33979545/v1

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