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2. Unexplained recurrent venous thrombosis in a patient with MYH9-related disease

Author

Fernando Negro, Paula G. Heller, Felisa C. Molinas, Ana C. Glembotsky, Anna Savoia, Alessandro Pecci, Carlo L. Balduini, Heller, Pg, Pecci, A, Glembotsky, Ac, Savoia, Anna, Negro, Fd, Balduini, Cl, and Molinas, Fc

Subjects
medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Medicina Clínica, Disease, MYH9-related disease, Myh9 related disease, MYH9, non muscle myosin heavy chain IIA, hemic and lymphatic diseases, Internal medicine, purl.org/becyt/ford/3.2 [https], Medicine, Hematología, Platelet, inherited thrombocytopenia, thrombosis, Recurrent venous thrombosis, business.industry, Hematology, General Medicine, medicine.disease, Thrombosis, PLATELETS, THROMBOSIS, Epstein Syndrome, Cardiology, purl.org/becyt/ford/3 [https], MYOSIN, business
Abstract

MYH9-related disease (MYH9-RD) comprises a spectrum of autosomal-dominant thrombocytopenias: May?Hegglin anomaly, Sebastian, Fechtner, and Epstein syndrome, all caused by mutations in MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present since birth with macrothrombocytopenia and cytoplasmic aggregates of NMMHCIIA in granulocytes recognizable by specific antibodies. These aggregates are often evident on May?Grunwald?Giemsa (MGG)-stained blood films as Do hle-like inclusions. Patients with MYH9-RD also present the risk of developing during lifetime the additional clinical features of glomerulonephritis, hearing loss and/or cataracts. Here we report a patient with MYH9-RD who experienced idiopathic recurrent venous thromboembolism. Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Pecci, Alessandro. Policlinico San Matteo; Italia. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; Italia Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Savoia, Anna. Telethon Institute of Genetics and Medicine; Italia Fil: Negro, Fernando D.. Atencion Pediatrica Integral; Argentina Fil: Balduini, Carlo L. Policlinico San Matteo; Italia. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; Italia Fil: Molinas, Felisa Concepción. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina

Published
2006

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