Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia.
Sign Up to like & getrecommendations! Published in 2021 at "Platelets"
DOI: 10.1080/09537104.2021.1988549
Abstract: Wiskott-Aldrich syndrome (WAS)/X-linked thrombocytopenia (XLT) is a rare X-linked disease characterized by thrombocytopenia, eczema, and recurrent infection. In addition, WAS/XLT increases incidence of autoimmune diseases and malignancies. We reported 7 male patients, 2 with WAS… read more here.
Keywords: novel mutations; syndrome linked; aldrich syndrome; two novel ... See more keywords
Platelet proteome and function in X-linked thrombocytopenia with thalassemia and in silico comparisons with gray platelet syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Haematologica"
DOI: 10.3324/haematol.2020.249805
Abstract: In X-linked thrombocytopenia with thalassemia (XLTT; OMIM 314050), caused by the mutation p.R216Q in exon 4 of the GATA1 gene, male hemizygous patients display macrothrombocytopenia, bleeding diathesis and a β-thalassemia trait. Herein, we describe findings… read more here.
Keywords: thrombocytopenia thalassemia; thalassemia; platelet syndrome; platelet ... See more keywords