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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 ...
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. [1] Symptoms include tiredness , pallor , bone problems, an enlarged spleen , jaundice , pulmonary hypertension , and dark urine. [ 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.
Symptoms of AIHA may be due to the underlying anemia; including shortness of breath or dyspnea, fatigue, headache, muscle weakness and pallor. [10] In cold agglutinin disease (cold antibody type), agglutination and impaired passage of red blood cells through capillaries in the extremities causes acrocyanosis and Raynaud phenomenon with a rare complication of gangrene [4]
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 ...
Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. [1]
Rare disease organizations (28 P) S. Supernumerary body parts (2 C, 24 P) Rare syndromes (3 C, 377 P) T. Tay–Sachs disease (4 P) Pages in category "Rare diseases"