Hemophilia A and hemophilia B are rare congenital, recessive X-linked disorders caused by
lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the …

Diagnosis of inherited bleeding disorders (IBDs) remains challenging, especially in the case
of inherited platelet disorders, due to the heterogeneity of the clinical and laboratory …

Sitosterolemia is a recessive inherited metabolic disorder of unknown prevalence,
characterized by increased levels of plasma plant sterols. It is caused by 28 and 31 variants …

Sequencing of the gene encoding for von Willebrand factor (VWF) has brought new insight
into the physiology of VWF as well as its pathophysiology in the context of von Willebrand …

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal-dominant genetic disorder
involving defects in two predominant genes known as endoglin (ENG; HHT-1) and activin …

The current paradigm for the diagnosis of haemophilia and other inherited bleeding
disorders (IBDs) based on clinical assessment followed by screening tests and confirmation …

Background Thrombophilia is a substantial source of indisposition and mortality in several
countries, including Arab populations. Deep venous thrombosis (DVT) with or without …

Abstract Background Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet
disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad …

This guideline updates the previous guidelines 1, 2 published on behalf of the British
Society for Haematology (BSH) and the United Kingdom Haemophilia Centre Doctors' …

Desmopressin (DDAVP) is used in patients with moderate/mild hemophilia A (PWMH) to
increase their factor VIII (FVIII) level and, if possible, normalize it. However, its effectiveness …