Artículo
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease
Heller, Paula Graciela
; Pecci, Alessandro; Glembotsky, Ana Claudia
; Savoia, Anna; Negro, Fernando D.; Balduini, Carlo L; Molinas, Felisa Concepción
Fecha de publicación:
12/2006
Editorial:
Taylor & Francis
Revista:
Platelets
ISSN:
0953-7104
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Palabras clave:
PLATELETS
,
THROMBOSIS
,
MYH9
,
MYOSIN
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Identificadores
Colecciones
Articulos(IDIM)
Articulos de INST.DE INVEST.MEDICAS
Articulos de INST.DE INVEST.MEDICAS
Citación
Heller, Paula Graciela; Pecci, Alessandro; Glembotsky, Ana Claudia; Savoia, Anna; Negro, Fernando D.; et al.; Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease; Taylor & Francis; Platelets; 17; 4; 12-2006; 274-275
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