A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

Abstract Background Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, presence of stomatocytes and dehydration of red blood cells (RBCs). The dehydration is caused by a defect in cellular cation content....

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Bibliographic Details
Main Authors: Daniele Zama, Giulia Giulietti, Edoardo Muratore, Immacolata Andolfo, Roberta Russo, Achille Iolascon, Andrea Pession
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Italian Journal of Pediatrics
Subjects:
Hemolytic anemia
Dehydrated hereditary stomatocytosis
Mean corpuscular hemoglobin concentration (MCHC)
Genetic disease
Next generation sequencing (NGS)
Online Access:http://link.springer.com/article/10.1186/s13052-020-00864-x

Internet

http://link.springer.com/article/10.1186/s13052-020-00864-x

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