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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Bibliografiska uppgifter
I publikationen:Case Rep Hematol
Huvudupphovsmän: Fermo, Elisa, Vercellati, Cristina, Marcello, Anna Paola, Zaninoni, Anna, van Wijk, Richard, Mirra, Nadia, Curcio, Cristina, Cortelezzi, Agostino, Zanella, Alberto, Barcellini, Wilma, Bianchi, Paola
Materialtyp: Artigo
Språk:Inglês
Publicerad: Hindawi 2017
Ämnen:
Case Report
Länkar: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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