NBEAL2 mutations and bleeding in patients with gray platelet syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Platelets"
DOI: 10.1080/09537104.2018.1478405
Abstract: Abstract Homozygosity/compound heterozygosity for loss of function mutations in neurobeachin-like 2 (NBEAL2) is causative for Gray platelet syndrome (GPS; MIM #139090), characterized by thrombocytopenia and large platelets lacking α-granules and cargo. Most GPS-associated NBEAL2 mutations… read more here.
Keywords: gps; gps patients; nbeal2 mutations; platelet syndrome ... See more keywords
Striking emperipolesis in megakaryocytes of gray platelet syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood.2019000494
Abstract: ![Figure][1] An 11-year-old girl was diagnosed with gray platelet syndrome (GPS) with compound heterozygous NBEAL2 mutations after presenting with recurrent epistaxis and thrombocytopenia. Bone marrow examination was performed to evaluate for myelofibrosis. Her blood film… read more here.
Keywords: striking emperipolesis; emperipolesis megakaryocytes; megakaryocytes gray; platelet syndrome ... 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