Homozygous antithrombin deficiency: report of two new cases (99 Leu to Phe) associated with arterial and venous thrombosis.
Inherited antithrombin deficiency is associated with an increased risk of thrombosis, primarily venous rather than arterial. Most affected individuals have inherited only a single copy of an abnormal antithrombin (AT) gene. Homozygously affected individuals, although rare, have a severe thrombotic history of early onset and often affecting the arteries. We report two new cases of type II HBS (heparin binding site) deficiency in which the propositi are homozygous for the previously reported mutation 99 Leu to Phe, and who have a severe thrombotic history. These cases are considered alongside existing homozygote and compound heterozygote cases.
Chowdhury
V
V
Institute of Molecular Medicine, Oxford, UK.
Lane
D A
DA
Mille
B
B
Auberger
K
K
Gandenberger-Bachem
S
S
Pabinger
I
I
Olds
R J
RJ
Thein
S L
SL
D000991:Antithrombins / Q000172:deficiency* / Q000235:genetics; D003062:Codon / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D013927:Thrombosis / Q000235:genetics*
D000991:Antithrombins; D003062:Codon