Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

Hereditary xerocytosis (HX) is a rare disorder caused by defects of RBC permeability, associated with haemolytic anaemia of variable degree and iron overload. It is sometimes misdiagnosed as hereditary spherocytosis or other congenital haemolytic anaemia. Splenectomy is contraindicated due to increa...

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Détails bibliographiques
Publié dans:Case Rep Hematol
Auteurs principaux: Fermo, Elisa, Vercellati, Cristina, Marcello, Anna Paola, Zaninoni, Anna, van Wijk, Richard, Mirra, Nadia, Curcio, Cristina, Cortelezzi, Agostino, Zanella, Alberto, Barcellini, Wilma, Bianchi, Paola
Format: Artigo
Langue:Inglês
Publié: Hindawi 2017
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5358460/
https://ncbi.nlm.nih.gov/pubmed/28367341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/2769570
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