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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 ...
Bleeding episodes in most cases of this disorder are mild and commonly involve easy bruising and menorrhagia. Less common manifestations of bleeding may be severe or even life-threatening; these include excessive bleeding after tooth extraction, surgery, vaginal birth, and miscarriage.
Acquired haemophilia A (AHA) is a rare but potentially life-threatening bleeding disorder characterized by autoantibodies directed against coagulation factor VIII.These autoantibodies constitute the most common spontaneous inhibitor to any coagulation factor and may induce spontaneous bleeding in patients with no previous history of a bleeding disorder.
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.
The most common symptoms are bleeding (due to dysfunctional platelets), blood clots (e.g., deep vein thrombosis or pulmonary embolism), fatigue, headache, nausea, vomiting, abdominal pain, visual disturbances, dizziness, fainting, and numbness in the extremities; the most common signs are increased white blood cell count, reduced red blood cell ...
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 ...
The incorrectly glycosalated fibrinogen is dysfunctional and may cause pathological episodes of bleeding and/or blood clotting. [5] Congenital hypodysfibrinogenemia, an inherited disorder in which low levels of fibrinogen composed at least in part of a dysfunctional fibrinogen may cause pathological episodes of bleeding or blood clotting. [6]
In 1998, the NHF convened the first Women with Bleeding Disorders Task Force, to address the difficulties women had in getting proper treatment. [5] In 2008, former NHF Board Chair and health advocate Val Bias became the group's CEO. [6] In 2013, actress and comedian Alex Borstein became the NHF's spokesperson for genetic testing. [7]
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