hereditary thrombophilia

hereditary thrombophilia

(1) Antithrombin III deficiency. 
(2) Protein C deficiency.

hereditary thrombophilia

Hematology A hereditary ↑ tendency to form intravascular blood clots Etiology Factor V Leiden, prothrombin G20210A polymorphism, defects in homocysteine metabolism, protein C, protein S or antithrombin III. See LETS.
References in periodicals archive ?
This new test looks at a patient's risk for a total of 10 diseases including: Parkinson's disease, late-onset Alzheimer's disease, Celiac disease, Gaucher disease type 1, and hereditary thrombophilia and Factor XI deficiency (both blood clotting disorders).
[9,10] Other risk factors include prolonged central venous cannulation, hereditary thrombophilia, trauma, burns and Wilms' tumour.
* Risk factors include previous VTE, family history of VTE, hereditary thrombophilia, antiphospholipid syndrome (APS), medical comorbidities, significant pregnancy complications, caesarean delivery (CD) prolonged antepartum immobilisation and clinical risk factors such as increased body mass index (BMI), age >35 years and parity [greater than or equal to] 3.
What is the role of the tests for hereditary thrombophilia in thrombosis?
Internationally, the publication of the European Prospective Cohort on Thrombophilia study in 1996 was among the first to provide evidence of a link between hereditary thrombophilia and recurrent miscarriages5.
The patient underwent a thrombophilia testing which was negative for hereditary thrombophilia (FV Leiden, FIIG20210A) as well as for anticardiolipins antibodies.
have identified recently a new prothrombin gene mutation c.1787G>T in a Japanese family with hereditary thrombophilia ([4]).
The presence or absence of some of these variants is associated with an increased risk for developing any one of the following 10 diseases or conditions: Parkinson's disease, late-onset Alzheimer's disease; celiac disease, alpha-1 antitrypsin deficiency; early-onset primary dystonia; factor XI deficiency; Gaucher disease type 1; glucose-6-phosphate dehydrogenase deficiency; hereditary hemochromatosis; and hereditary thrombophilia. Authorization of the 23andMe GHR tests was supported by data from peer-reviewed scientific literature that demonstrated a link between specific genetic variants and each of the 10.
The other diseases covered by the tests are celiac disease, alpha-1 antitrypsin deficiency, early onset primary dystonia, Factor XI deficiency, Gaucher disease type 1, glucose-6-Phosphate Dehydrogenase deficiency (also known as G6PD), hereditary hemochromatosis, and hereditary thrombophilia.
Genetics company 23andMe Inc reported on Thursday the receipt of the first authorisation from the the US Food and Drug Administration (FDA) to market genetic reports on personal risk for late-onset Alzheimer's disease, Parkinson's disease, celiac disease and hereditary thrombophilia (harmful blood clots), among others.
Hereditary thrombophilia is a group of genetic disorders of blood coagulation.

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