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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.
The condition is of importance in the differential diagnosis to other bleeding disorders, specifically the hemophilias: hemophilia A with a deficiency in factor VIII or antihemophilic globulin, hemophilia B with a deficiency in factor IX (Christmas disease), and hemophilia C with a deficiency in factor XI. Other rare forms of bleeding 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.
Signs of folate deficiency anemia most of the time are subtle. [4] Anemia (macrocytic, megaloblastic anemia) can be a sign of advanced folate deficiency in adults. [1] Folate deficiency anemia may result in feeling tired, weakness, changes to the color of the skin or hair, open sores on the mouth, shortness of breath, palpitations, lightheadedness, cold hands and feet, headaches, easy bleeding ...
People with hemophilia have a fault in a gene that regulates production of proteins called clotting factors, which can cause spontaneous as well as severe bleeding following injuries or surgery.
The Food and Drug Administration on Friday approved Pfizer’s treatment for a rare genetic bleeding disorder, making it the company’s first-ever gene therapy to win clearance in the U.S.. The ...
Platelet storage pool deficiency is a family of clotting disorders characterized by deficient granules in platelets.Individuals with these disorders have too few or abnormally functioning alpha granules, delta granules, or both alpha and delta granules and are therefore unable to form effective clots, which leads to prolonged bleeding.