Rare Blood Disease Innovations Address Unmet Needs, According to ASH Data Giuliana Grossi Innovations in rare blood disorders took center stage at the 2024 American Society of Hematology (ASH) Annual Meeting & Exposition, with key research presented on immune thrombocytopenia, hemophilia, and multiple ...
In 1924, physician Eli Moschcowitz presented the world with a baffling new case: a teenager who had collapsed and died from a mysterious illness that left her body riddled with tiny blood clots.1Now known as thrombotic thrombocytopenic purpura (TTP), this rare disease features a dramatic reduct...
evaluation of the peripheral blood smear, direct anti-globulin test (DAT), haemolysis markers, viral serology and low threshold for bone-marrow examination. It is noteworthy that the incidence of DAT positivity amongst cases of ICI-associated AIHA may be lower than in primary AIHA and diagnosis ...
ADAMTS13, Plasma exchange, Congenital TTPWe report a case of a 16-year-old female who presented with bleeding diathesis. Peripheral blood film examination was consistent with microangiopathic hemolytic anemia with 7% fragmented red blood cells. The ADAMTS13 level was 40 ng/ml (reference range: ...
Blood, Sweat and Smears is a podcast hosted by Dr. Brad Lewis. This podcast focuses on bleeding, clotting, rare disease and complement-mediated disorders, as well as related news and events shaping current approaches in clinical management and laboratory medicine. Dr. Lewis shares his insights an...
The very rare, inherited blood clotting disorder called cTTP is caused by a disease-causing mutation in the ADAMTS13 gene, which is responsible for making an enzyme, also named ADAMTS13, that regulates blood clotting. A deficiency in this enzyme causes blood clots to form in th...
sensory neuropathy IV (HMSN IV), is a rare inherited disorder characterized by defective peroxisomal alpha oxidation of the fatty acids. This defect impairs the metabolism of branched chain fatty acids like phytanic acid (Phyt) and, as a consequence, Phyt accumulates in the blood and other ...
and Rare Pediatric Disease Designation. The U.S. FDA granted Takeda a Rare Pediatric Disease Voucher for the approval of ADZYNMA. ADZYNMA has also been granted ODD by the European Medicines Agency (EMA) and Japan's Ministry ...
Free lying pseudomembranous exudate composed of mucus, inflammatory exudate and blood is noted near the luminal surface. These findings are highly suggestive of enterohaemorrhagic E.coli” Full size image Despite 24 h of steroid therapy, the patient still had on-going bloody diarrhoea although his...
ii.ADAMTS13 activity determination is required in all patients identified as having aHUS, as manifestations of aHUS and TTP may overlap. In addition, the association ofCFHmutation with a hereditary complete deficiency of ADAMTS13 has been reported [96]. Blood must be collected before PI or PE....