Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices

Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices

Gardos channelopathy (Gardos-HX) or type 2 stomatocytosis/xerocytosis is a hereditary hemolytic anemia due to mutations in the KCNN4 gene. It is rarer than inherited type 1 xerocytosis due to PIEZO1 mutations (Piezo1-HX) and its diagnosis is difficult given the absence of a specific clinical or biol...

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Bibliographic Details
Main Authors: Véronique Picard, Corinne Guitton, Lamisse Mansour-Hendili, Bernard Jondeau, Laurence Bendélac, Maha Denguir, Julien Demagny, Valérie Proulle, Frédéric Galactéros, Loic Garçon
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Physiology
Subjects:
reticulocytes
Piezo1
xerocytosis
Gardos
red cell indices
Online Access:https://www.frontiersin.org/articles/10.3389/fphys.2020.602109/full

Internet

https://www.frontiersin.org/articles/10.3389/fphys.2020.602109/full

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