Abstract
Inherited thrombocytopenias vary in their presentation, associated features, and molecular etiologies. An accurate diagnosis is important to provide appropriate therapy as well as counseling for the individual and their family members. As the genetic basis of more disorders is understood, it will be possible to diagnose a greater fraction of patients as well as learn more about the process of megakaryopoiesis and platelet production.
© 2012 Blackwell Publishing Ltd.
MeSH terms
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Blood Platelet Disorders / congenital*
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Blood Platelet Disorders / diagnosis
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Blood Platelet Disorders / physiopathology
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Blood Platelet Disorders / therapy
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Congenital Bone Marrow Failure Syndromes
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Humans
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Megakaryocytes / cytology
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Megakaryocytes / metabolism
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Megakaryocytes / pathology
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Radius / abnormalities
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Radius / physiopathology
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Synostosis / diagnosis
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Synostosis / genetics
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Synostosis / physiopathology
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Synostosis / therapy
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Thrombocytopenia / congenital
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Thrombocytopenia / diagnosis
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Thrombocytopenia / etiology*
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Thrombocytopenia / genetics
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Thrombocytopenia / physiopathology
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Thrombocytopenia / therapy
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Thrombopoiesis
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Ulna / abnormalities
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Ulna / physiopathology
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Upper Extremity Deformities, Congenital / diagnosis
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Upper Extremity Deformities, Congenital / genetics
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Upper Extremity Deformities, Congenital / physiopathology
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Upper Extremity Deformities, Congenital / therapy
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von Willebrand Disease, Type 2 / diagnosis
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von Willebrand Disease, Type 2 / genetics
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von Willebrand Disease, Type 2 / physiopathology
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von Willebrand Disease, Type 2 / therapy
Supplementary concepts
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Absent radii and thrombocytopenia
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Congenital amegakaryocytic thrombocytopenia
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Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia