Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

• Published in: Orphanet journal of rare diseases Vol. 9; no. 1; p. 213
• Main Authors: Sánchez-Guiu, Isabel, Antón, Ana I, Padilla, José, Velasco, Francisco, Lucia, José F, Lozano, Miguel, Cid, Ana Rosa, Sevivas, Teresa, Lopez-Fernandez, María F, Vicente, Vicente, González-Manchón, Consuelo, Rivera, José, Lozano, María L
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 24.12.2014; BioMed Central
• Subjects: Adolescent; Adult; Analysis; Blood Platelet Disorders - diagnosis; Blood Platelet Disorders - epidemiology; Blood Platelet Disorders - genetics; Blood platelets; Blood Platelets - metabolism; Child; Cohort Studies; Cooperative Behavior; Development and progression; Families & family life; Female; Genetic aspects; Genetic counseling; Genetic disorders; Health care industry; Hospitals; Humans; Laboratories; Male; Medical research; Middle Aged; Patients; Prospective Studies; Rare diseases; Spain - epidemiology; Studies; Thrombosis; Young Adult; Spain

The diagnostic evaluation of inherited platelet disorders (IPDs) is complicated and time-consuming, resulting in a relevant number of undiagnosed and incorrectly classified patients. In order to evaluate the spectrum of IPDs in individuals with clinical suspicion of these disorders, and to provide a...