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....

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Daniele Zama, Giulia Giulietti, Edoardo Muratore, Immacolata Andolfo, Roberta Russo, Achille Iolascon, Andrea Pession
Format: Artigo
Idioma:Inglês
Publicat: BMC 2020-07-01
Col·lecció:Italian Journal of Pediatrics
Matèries:
Hemolytic anemia
Dehydrated hereditary stomatocytosis
Mean corpuscular hemoglobin concentration (MCHC)
Genetic disease
Next generation sequencing (NGS)
Accés en línia:http://link.springer.com/article/10.1186/s13052-020-00864-x
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars