The introduction of high throughput sequencing (HTS) techniques greatly improved the
knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different …

Platelets play a major role in hemostasis as ppwell as in many other physiological and
pathological processes. Accordingly, production of about 1011 platelet per day as well as …

Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder
characterized by defects of the GPIb‐IX‐V complex, a platelet receptor for von Willebrand …

The inherited platelet glycoprotein deficiencies, Glanzmann thrombasthenia (GT) and
Bernard Soulier syndrome (BSS) are rare but important long‐term bleeding disorders. Once …

Abnormalities of platelet size are one of the distinguishing features of inherited
thrombocytopenias (ITs), and evaluation of blood films is recommended as an essential step …

ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been
recently identified in a few families and has been suspected to predispose to hematologic …

The great advances in the knowledge of inherited thrombocytopenias (ITs) made since the
turn of the century have significantly changed our view of these conditions. To date, ITs …

Patients with inherited thrombocytopenias often require platelet transfusions to raise their
platelet count before surgery or other invasive procedures; moreover, subjects with clinically …

Genetic defects of platelets constitute rare diseases that include bleeding syndromes of
autosomal dominant, recessive or X‐linked inheritance. They affect platelet production …

The diagnosis of inherited thrombocytopenias is difficult, for many reasons. First, as they are
all rare diseases, they are little known by clinicians, who therefore tend to suspect the most …