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....

Deskribapen osoa

Xehetasun bibliografikoak

Egile Nagusiak:	Daniele Zama, Giulia Giulietti, Edoardo Muratore, Immacolata Andolfo, Roberta Russo, Achille Iolascon, Andrea Pession
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2020-07-01
Saila:	Italian Journal of Pediatrics
Gaiak:	Hemolytic anemia Dehydrated hereditary stomatocytosis Mean corpuscular hemoglobin concentration (MCHC) Genetic disease Next generation sequencing (NGS)
Sarrera elektronikoa:	http://link.springer.com/article/10.1186/s13052-020-00864-x
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!