A boy with venous thrombosis, homozygous for factor V Leiden, prothrombin G20210A and MTHFR C667T mutations, but belonging to an asymptomatic family

Citation
Jm. Soria et al., A boy with venous thrombosis, homozygous for factor V Leiden, prothrombin G20210A and MTHFR C667T mutations, but belonging to an asymptomatic family, HAEMATOLOG, 85(11), 2000, pp. 1230-1232
Citations number
8
Categorie Soggetti
Cardiovascular & Hematology Research
Journal title
HAEMATOLOGICA
ISSN journal
03906078 → ACNP
Volume
85
Issue
11
Year of publication
2000
Pages
1230 - 1232
Database
ISI
SICI code
0390-6078(200011)85:11<1230:ABWVTH>2.0.ZU;2-U
Abstract
We evaluated a 9-year old boy presenting with deep venous thrombosis who wa s homozygous for factor V Leiden, prothrombin 20210A and methylenetetrahydr ofolate reductase C677T mutations. All of his relatives who were either tri ple- or double-heterozygotes were asymptomatic. This observation indicates that thrombophilia is a complex genetic disorder and there is great deal mo re to be learned about this disease.