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Factor V Leiden ( rs6025 or F5 p.R506Q[ 1]) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting ( hypercoagulability ). Due to this mutation, protein C, an anticoagulant protein that normally inhibits the pro-clotting activity of factor V, is not able to ...
Factor V. Coagulation factor V ( Factor V ), also less commonly known as proaccelerin or labile factor, is a protein involved in coagulation, encoded, in humans, by F5 gene. [ 5] In contrast to most other coagulation factors, it is not enzymatically active but functions as a cofactor. [ 5] Factor V deficiency leads to predisposition for ...
1 per 1000 people [ 8] Pernicious anemia is a disease where not enough red blood cells are produced due to a deficiency of vitamin B 12. [ 5] Those affected often have a gradual onset. [ 5] The most common initial symptoms are feeling tired and weak. [ 4]
It can present in conjunction with protein S deficiency and factor V Leiden. [8] It is not currently known if sticky platelet syndrome is a distinct condition, or if it represents part of the presentation of a more well characterized coagulation disorder. SPS has not been widely studied [9] and is not widely known. [10]
Activated protein C resistance ( APCR) is a hypercoagulability (an increased tendency of the blood to clot) characterized by a lack of a response to activated protein C (APC), which normally helps prevent blood from clotting excessively. This results in an increased risk of venous thrombosis (blood clots in veins), which resulting in medical ...
Haemophilia. 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. [ 2][ 3] This results in people bleeding for ...
The first therapy that uses gene-editing is to be offered on the NHS in a “revolutionary breakthrough” for patients. It will be used as a potential cure for the blood disorder beta thalassaemia.
Rh disease. Rh disease (also known as rhesus isoimmunization, Rh (D) disease, or rhesus incompatibility, and blue baby disease) is a type of hemolytic disease of the fetus and newborn (HDFN). HDFN due to anti-D antibodies is the proper and currently used name for this disease as the Rh blood group system actually has more than 50 antigens and ...