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  • Title: Design of a prospective neonatal cohort study of homozygous and double heterozygous factor V Leiden and factor II G20210A.
    Author: Hundsdoerfer P, Vetter B, Stöver B, Bassir C, Mönch E, Ziemer S, Kulozik AE.
    Journal: Klin Padiatr; 2000; 212(4):159-62. PubMed ID: 10994543.
    Abstract:
    BACKGROUND: Factor V Leiden (FVL) and Factor II (FII) G20210A represent common risk factors for thromboembolic (TE) events. In children, both venous and arterial TE-events have been associated with the presence of FVL and FII G20210A. In most heterozygous children with TE-events other prothrombotic factors can usually be identified. Case reports of children with homozygous FVL, including 3 patients described here, suggest that this genotype may convey a particulary high risk. However, prospective data about the type and frequency of TE-events in such children are lacking. STUDY DESIGN: We have initiated a prospective neonatal cohort study for the homozygous and double heterozygous genotypes for FVL and FII G20210A. The probands and the heterozygous controls are identified by neonatal screening that involves > 98% of the children born in Berlin and are followed up in a special out-patient clinic to document details of the clinical history, developmental parameters and the occurrence of TE-events. CONCLUSIONS: This study will provide controlled and unbiased information about the clinical significance of the homozygous and double heterozygous genotypes of these mutations.
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