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Haemophilia (British English), or hemophilia (American English) [6] (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), [7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Beta-thalassemia (β-thalassemia) is an autosomal dominant blood condition that results in the reduction of hemoglobin production. The cause for the disorder is related to a genetic mutation of the HBB gene. This gene is responsible for providing the instructions to produce beta-globin; one of the major components of hemoglobin.
Blood clots in veins don't typically cause strokes, but they can lead to deep vein thrombosis, aka the reason you should stretch your legs during a long flight. Clots that form in the deep veins ...
The underlying pathology of CADASIL is progressive hypertrophy of the smooth muscle cells in blood vessels. Autosomal dominant mutations in the NOTCH3 gene (on the long arm of chromosome 19) cause an abnormal accumulation of Notch 3 protein at the cytoplasmic membrane of vascular smooth muscle cells both in cerebral and extracerebral vessels, [8] seen as granular osmiophilic deposits on ...
Neither did he ever suggest a triad to describe the pathogenesis of venous thrombosis. In fact, it was not until decades after Virchow's death that a consensus was reached proposing that thrombosis is the result of alterations in blood flow, vascular endothelial injury, or alterations in the constitution of the blood.
Rare genetic disorders that cause vascular lesions in the brain have other presentation patterns. As a rule, they tend to occur earlier in life and have a more aggressive course. In addition, infectious disorders, such as syphilis, can cause arterial damage, strokes, and bacterial inflammation of the brain. [10]
Mechanism of blood clotting. Some of the conditions which increase the risk of blood clots developing include atrial fibrillation (a form of cardiac arrhythmia), heart valve replacement, a recent heart attack (also known as a myocardial infarction), extended periods of inactivity (see deep venous thrombosis), and genetic or disease-related ...
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262 Neil Avenue # 430, Columbus, Ohio · Directions · (614) 221-7464