INTRODUCTION Acquired haemophilia A is a rare life- and limb-threatening bleeding disorder if left untreated. Autoimmune thyroiditis is an autoimmune disorder that can be rarely associated with acquired haemophilia. Here we report a case of a 60-year-old woman presenting with cutaneous and muscle haematomas secondary to acquired haemophilia A in association with autoimmune thyroiditis, who was ...

Acquired amegakaryocytic thrombocytopenia (AAT) is a rare hematological disorder causing severe thrombocytopenia and bleeding. Previous in vitro studies postulated both cell-mediated suppression of megakaryocytopoiesis in early megakaryocytic progenitor cells and humoral-mediated suppression by anti-thrombopoietin antibodies as possible etiologies of AAT. Patients with AAT usually present with ...

GT, a rare disorder of platelet function, can lead to life-threatening bleeding, particularly following the development of antiplatelet antibodies. Curative therapy includes HCT but previous reports are limited predominantly to matched siblings and have excluded CBT. Delayed or non-engraftment of platelets because of antiplatelet antibodies might be particularly concerning after CBT for GT. Her...

Introduction Wiskott-Aldrich syndrome is a rare X-linked disorder which, in its fully expressed form, is recognised by the clinical triad of combined immune deficiency, thrombocytopenia, and eczema.' An increased risk of malignancy has also been reported, with an incidence of about 12% in some series and susceptibility, in particular, to acute leukaemia, lymphoma, and solid tumours of the centr...

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with characteristic vascular malformations of the skin, gastrointestinal system, and, less often, other organ systems. The characteristic cutaneous lesions consist of deep-blue, soft, rubbery blebs, which are easily compressible. The most serious complication is abundant gastrointestinal bleeding. We describe the case of an 8-year-old g...

Hermansky-Pudlak syndrome (HPS) is a rare disorder characterised by oculocutaneous albinism, a bleeding tendency, and lipofuscinosis. This retrospective study reviews the clinical history and haematological features of 23 cases of HPS. Information was gathered from patient notes and by direct interview. Thirteen of the 23 children were of Turkish origin, 12 being members of four kindreds from t...

Factor X deficiency (also known as Stuart-Prower factor deficiency) is an extremely rare hereditary hematologic disorder, affecting 1 person in 2 million. The gene causing this condition is autosomal recessive; thus, only those inheriting from both parents exhibit clinical symptoms, such as moderate bleeding, easy bruising and subcutaneous bleeding from mucous membranes. Patients with marked de...

Von Willebrand disease type 3 (VWD3) is the most severe form of this bleeding disorder due to the almost complete deficiency of von Willebrand factor (VWF). VWD3 is inherited as an autosomal recessive trait. While heterozygous carriers exhibit mild or no bleeding symptoms, most patients with VWD3, which is characterized by undetectable levels of VWF antigen (VWF:Ag) and reduced concentrations (...

Acquired hemophilia A (AHA) is a rare, potentially life-threatening hemorrhagic disorder that presents a complex clinical challenge. The immune-mediated production of autoantibodies, known as factor VIII inhibitors, often results in clinically significant soft tissue or post-procedural bleeding episodes in patients without a previous diagnosis of a bleeding disorder. Acquired antibodies against...