Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific
family, have recently been reported to be responsible for inherited thrombocytopenia and …

Background Careful assessment of bleeding history is the first step in the evaluation of
patients with mild/moderate bleeding disorders, and the use of a bleeding assessment tool …

Leukocyte adhesion deficiency type III (LAD-III) is a recessive autosomal condition
characterized by bleeding events and life-threatening infections. This condition is due to …

Abstract Background The ISTH Bleeding Assessment Tool (ISTH‐BAT) has been validated
for clinical screening of suspected von Willebrand disease (VWD) and for bleeding …

Congenital macrothrombocytopenia is a family of rare diseases, of which a significant
fraction remains to be genetically characterized. To analyze cases of unexplained …

The development of inhibitory antibodies to factor VIII (FVIII) or factor IX (FIX) in patients with
haemophilia is a serious complication of treatment with coagulation factor concentrates …

Glanzmann thrombasthenia (GT) is a genetic bleeding disorder characterised by severely
reduced/absent platelet aggregation in response to multiple physiological agonists. The …

Background GATA1 is an essential transcription factor for both polyploidization and
megakaryocyte (MK) differentiation. The polyploidization defect observed in GATA1 variant …

Abstract Background Recombinant factor VIII Fc fusion protein (rFVIIIFc) is the first extended
half-life (EHL) recombinant clotting factor with marketing authorization; it has been available …

Introduction Health of people with severe haemophilia (PwSH) improves thanks to the
advancements in haemophilia care, giving them more opportunities in occupational …