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Platelet features allow to differentiate immune thrombocytopenia from inherited thrombocytopenia
Annals of Hematology, 2021Immune thrombocytopenia (ITP) is an acquired bleeding disorder, for which no specific diagnostic test exists. Inherited thrombocytopenia (IT) can mimic ITP and lead to unappropriated management with significant morbidity. Here, in small cohorts of these two disorders, we explored whether platelet sialylation and platelet activation could allow to ...
Guillaume Bonnard +12 more
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Diagnosis and treatment of inherited thrombocytopenias
Clinical Genetics, 2015Knowledge in the field of inherited thrombocytopenias (ITs) has greatly improved over the last 15 years. Several new genes responsible for thrombocytopenia have been identified leading to the definition of novel nosographic entities and to a much better characterization of the phenotypes of these diseases.
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Megakaryocytes and inherited thrombocytopenias.
Bailliere's clinical haematology, 1997Inherited thrombocytopenias may be divided into two groups. In the first group, there is no marked thrombocytopathy. Although numerous in the bone marrow, megakaryocytes often are abnormal cytologically. A dysmegakaryocytopoiesis with defective platelet production is suggested but remains to be evidenced.
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[Inherited thrombocytopenias].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2010Secondary causes of thrombocytopenia as immunologic thrombopenia purpura, or ITP, are far more common than inherited causes, which even as a group, are rare. Nevertheless, diagnosis is important and progress made in uncovering the molecular basis of these disorders has contributed greatly to our knowledge of these diseases.
G, Leverger +4 more
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Seminars in Hematology, 2006
Thrombocytopenia in the newborn period can signify an inherited platelet disorder. Congenital amegakaryocytic thrombocytopenia (CAMT) and thrombocytopenia with absent radii (TAR) share features of isolated thrombocytopenia, reduced or absent marrow megakaryocytes, impaired responsiveness to thrombopoietin (TPO), and high plasma TPO levels.
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Thrombocytopenia in the newborn period can signify an inherited platelet disorder. Congenital amegakaryocytic thrombocytopenia (CAMT) and thrombocytopenia with absent radii (TAR) share features of isolated thrombocytopenia, reduced or absent marrow megakaryocytes, impaired responsiveness to thrombopoietin (TPO), and high plasma TPO levels.
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Inherited and Congenital Thrombocytopenia
2020Inherited forms of thrombocytopenia are rare entities comprising decreased or defective platelet production. Oftentimes, this finding is associated with bone marrow failure syndromes or other genetic disorders. Prompt recognition and diagnosis through algorithmic testing is key in order to provide anticipatory guidance, prevention of bleeding ...
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A New Family with Inherited Thrombocytopenia
Scandinavian Journal of Haematology, 1980This paper presents a family with 13 individuals in 3 generations with thrombocytopenia on the basis of autosomal dominant inheritance.
Lars Danielsson +2 more
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Inherited thrombocytopenias: an approach to diagnosis and management
International Journal of Laboratory Hematology, 2012SummaryInherited 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 ...
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[Diagnosis of inherited thrombocytopenia].
La Revue de medecine interne, 2016Inherited thrombocytopenias are rare, heterogenous and probably under-diagnosed because often classified as autoimmune thrombocytopenia. About 20 genes were described responsible for these thrombocytopenias. Precise diagnosis is necessary because the prognosis is different and some of them can evolve into hemopathies.
Baccini, V, Alessi, Marie-Christine
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