PB3516 Identification of Novel NBEAL2 Variants and Functional Characterisation of Grey Platelet Syndrome in Four Unrelated Pedigrees
Year: 2026
Type: conference-abstract
Abstract: Grey platelet syndrome (GPS) is a rare recessive inherited platelet disorder (IPD) caused by biallelic variants in NBEAL2. The affected patients typically present with bleeding diathesis, macrothrombocytopenia, platelet α-granules deficiency, elevated vitamin B12, and myelofibrosis.
Authors: Ana Zamora-Cánovas, Ana Sánchez-Fuentes, Ana Marín-Quílez, Lorena Díaz-Ajenjo, Pedro Luis Gómez-González, Irene Peláez-Pleguezuelos, Miren Gabilondo-Jalón, José Miguel Bosch-Benítez, Agustin Rodriguez-Alen, José Padilla, Nuria Fernández Mosteirín, Cristina Sierra-Aisa, Carlo Zaninetti, María Luisa Lozano, José Guerrero, Jose Maria Bastida, Jose Rivera
Institutions: Centre for Biomedical Network Research on Rare Diseases, Centro Regional de Hemodonación, Instituto Murciano de Investigación Biosanitaria, Universidad de Murcia, Universidad de Salamanca, Complejo Hospitalario de Salamanca, Instituto de Investigación Biomédica de Salamanca, Centro de Investigación del Cáncer, Instituto de Biología Molecular y Celular del Cáncer de Salamanca, Hospital Universitario Virgen de las Nieves, Hospital Universitario Araba, Hospital Universitario Insular de Gran Canaria, Complejo Hospitalario Universitario de Toledo, Hospital Universitario de Toledo, Hospital Universitario Miguel Servet, Hospital de Cruces, Universitätsmedizin Greifswald, Hospital General Universitario Morales Meseguer
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,250
OpenAlex ID: W7220398673