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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 ...
RUNX1 Familial Platelet Disorder (RUNX1-FPD) also known as Familial platelet disorder with associated myeloid malignancies, FPDMM, is a rare inherited disease caused by one of over 100 known variants (i.e., mutations) in an individual’s RUNX1 gene.
Thalassemias are a group of inherited blood disorders that manifest as the production of reduced or zero quantities of hemoglobin. [7] Symptoms depend on the type of thalassemia and can vary from none to severe, including death. [1]
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 ...
Thrombotic thrombocytopenic purpura (TTP) is a blood disorder that results in blood clots forming in small blood vessels throughout the body. [2] This results in a low platelet count, low red blood cells due to their breakdown, and often kidney, heart, and brain dysfunction. [1]
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 ...
Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelets cannot stick adequately to injured blood vessel walls, resulting in abnormal bleeding when injured.
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