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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Detaylı Bibliyografya
Yayımlandı:Case Rep Hematol
Asıl Yazarlar: Fermo, Elisa, Vercellati, Cristina, Marcello, Anna Paola, Zaninoni, Anna, van Wijk, Richard, Mirra, Nadia, Curcio, Cristina, Cortelezzi, Agostino, Zanella, Alberto, Barcellini, Wilma, Bianchi, Paola
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Hindawi 2017
Konular:
Case Report
Online Erişim: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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