Inherited thrombocytopenias.

Molecular basis of inherited thrombocytopenias.

Inherited thrombocytopenias (IT) are a heterogeneous group of diseases caused by at least 20 different genes. At present, these genes account for approximately 50% of cases, suggesting that novel genes have yet to be identified for a comprehensive understanding of platelet biogenesis defects. This review provides an update of ITs focusing on the molecular basis and potential pathogenic mechanis...

Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine.

BACKGROUND Although no epidemiological study has so far been performed, inherited thrombocytopenias are considered to be very rare based on the number of case reports in the literature. However, diagnosis of these disorders is often difficult and requires competences that are limited to specialized centers. We, therefore, suspect that inherited thrombocytopenias are underreported because their ...

Inherited thrombocytopenias: from genes to therapy.

BACKGROUND AND OBJECTIVES Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. Some of these diseases are exclusive to megakaryocytes and platelets, while in others the pathology extends to other cell types. Although the defective genes, coding for membrane glyoproteins, cytoskeleton components and intracellular signaling p...

Inherited thrombocytopenias.

Bleeding syndromes that arise through an inherited defect of platelet production constitute a heterogeneous group of rare platelet disorders of growing importance. Some, including the Bernard-Soulier syndrome (BSS) and Wiskott-Aldrich syndrome (WAS), associate a low circulating platelet count with a deficiency in a known functional protein (Table 1). In others, platelet dysfunction has not been...

Inherited thrombocytopenias in the era of personalized medicine.