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
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.