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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Case Rep Hematol
Päätekijät: Fermo, Elisa, Vercellati, Cristina, Marcello, Anna Paola, Zaninoni, Anna, van Wijk, Richard, Mirra, Nadia, Curcio, Cristina, Cortelezzi, Agostino, Zanella, Alberto, Barcellini, Wilma, Bianchi, Paola
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Hindawi 2017
Aiheet:
Case Report
Linkit: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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