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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Vydáno v:Case Rep Hematol
Hlavní autoři: Fermo, Elisa, Vercellati, Cristina, Marcello, Anna Paola, Zaninoni, Anna, van Wijk, Richard, Mirra, Nadia, Curcio, Cristina, Cortelezzi, Agostino, Zanella, Alberto, Barcellini, Wilma, Bianchi, Paola
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2017
Témata:
Case Report
On-line přístup: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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