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Chorea-acanthocytosis (ChAc)(also known as Levine-Critchley syndrome, acanthocytosis with neurologic disorder, neuroacanthocytosis, and choreoacanthocytosis) [53] is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized as ...
Glanzmann's thrombasthenia is an abnormality of the platelets. [2] It is an extremely rare coagulopathy (bleeding disorder due to a blood abnormality), in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen.
Danicopan, sold under the brand name Voydeya, is a medication used for the treatment of paroxysmal nocturnal hemoglobinuria. It is a complement inhibitor which reversibly binds to factor D to prevent alternative pathway-mediated hemolysis and deposition of complement C3 proteins on red blood cells. The most common side effects include fever, headache, increased levels of liver enzymes (a sign ...
Atypical hemolytic uremic syndrome (aHUS), also known as complement-mediated hemolytic uremic syndrome (not to be confused with hemolytic–uremic syndrome), is an extremely rare, life-threatening, progressive disease that frequently has a genetic component. In most cases, it can be effectively controlled by interruption of the complement cascade.
Erdheim–Chester disease (ECD) is an extremely rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages (technically, this disease is termed a non-Langerhans-cell histiocytosis). It was declared a histiocytic neoplasm by the World Health Organization in 2016. [1]
Myasthenia gravis, or MG, is a chronic autoimmune neuromuscular disorder that causes muscle weakness and fatigue. Myasthenia gravis is one of the rarest and most concerning muscular disorders ...
Hematologic diseases are disorders which primarily affect the blood and blood-forming organs. Hematologic diseases include rare genetic disorders, anemia , HIV , sickle cell disease and complications from chemotherapy or transfusions.
Congenital TTP is a life-threatening, rare genetic disorder with debilitating chronic symptoms. It leads to abnormal clotting in the small blood vessels throughout the body and is associated with ...
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