Back to Search
Start Over
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
- Source :
-
Haematologica [Haematologica] 2014 Mar; Vol. 99 (3), pp. 561-9. Date of Electronic Publication: 2013 Oct 25. - Publication Year :
- 2014
-
Abstract
- Hereditary natural anticoagulant deficiencies are the major cause of genetic thrombophilia in Asia. Given the growing acknowledgment of the risk of venous thromboembolism in Asian populations, we investigated the frequency and mutation spectrums of natural anticoagulant deficiency in Korea. The group of patients consisted of consecutive patients with venous thromboembolism screened for thrombophilia. Genetic tests were performed on suspicion of natural anticoagulant deficiency. For the population group, >3,000 individuals were screened from routine check-ups, and those with a low level (<1(st) percentile) of natural anticoagulant underwent genetic tests. Mutations were detected by direct sequencing of PROC, PROS1, and SERPINC1, followed by additional multiplex ligation-dependent probe amplification for PROS1 and SERPINC1 for dosage mutations. Among 500 patients screened, 127 were suspected of having a natural anticoagulant deficiency, and this was genetically confirmed in 71: protein C deficiency in 36 (50.7%), antithrombin deficiency in 21 (29.6%), and protein S deficiency in 14 (19.7%). Among 3,129 individuals from the population who were screened, the frequency of natural anticoagulant deficiency was ~1.0%: antithrombin deficiency 0.49%, protein C deficiency 0.35%, and protein S deficiency 0.16%. Two PROC mutations causing type I protein C deficiency were prevalent (Arg211Trp and Met406Ile in patients and Arg211Trp in the population). Two SERPINC1 mutations causing type II antithrombin deficiency, Arg79Cys and Ser158Pro, were prevalent in the population group. This is the first study on the genetic epidemiology of natural anticoagulant deficiencies in Korea. The results demonstrated that the frequencies and spectrum of mutations underlying genetic thrombophilia in Korea are different not only from those in Caucasians but also those in other Asian populations.
- Subjects :
- Adult
Antithrombin III genetics
Asia
Blood Proteins genetics
Female
Humans
Male
Middle Aged
Protein C genetics
Protein S
Republic of Korea
Thromboembolism diagnosis
Venous Thromboembolism diagnosis
Venous Thromboembolism epidemiology
Venous Thromboembolism genetics
Genetic Predisposition to Disease
Mutation
Thromboembolism epidemiology
Thromboembolism genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1592-8721
- Volume :
- 99
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Haematologica
- Publication Type :
- Academic Journal
- Accession number :
- 24162787
- Full Text :
- https://doi.org/10.3324/haematol.2013.092023