Article
Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism.
Thrombosis and haemostasis - 1 Oct 2001
Kuhle S, Lane D A, Jochmanns K, Male C, Quehenberger P, Lechner K, Pabinger I
Abstract excerpt
We report 5 children from 3 families with homozygous antithrombin deficiency type II affecting the heparin binding site (99 Leu to Phe mutation). Four children had severe spontaneous thromboembolic events (deep leg or caval vein thrombosis, ischaemic stroke) at one week, 3 months, 13 and 14 years of age. The fifth patient, a 17 year-old boy was asymptomatic. Early manifestation of homozygous deficiency calls for...
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