Antithrombin Nagasaki (Ser 116 to Pro): a rare antithrombin variant with abnormal heparin binding presenting during pregnancy.
Quantitative antithrombin deficiency constitutes an important risk factor for venous thromboembolism, stillbirth, and other complications of pregnancy. Studies suggest, however, that individuals heterozygous for missense mutations involving the heparin-binding site of antithrombin do not have a significantly increased thrombotic risk. Owing to the rarity of such mutations, it remains unclear whether any specific heparin-binding site defects might be associated with thrombotic potential. We report here the case of a pregnant woman with an exceptionally rare Type II heparin-binding site antithrombin variant. This case highlights the difficult issues that are associated with the management of Type II antithrombin deficiency during pregnancy.
National Centre for Hereditary Coagulation Disorders, St James's Hospital, Dublin, Ireland. jodonnell@stjames.ie
James S
JS
O'Ddonnell
Larry
L
Hinkson
Andrew
A
McCarthy
Richard
R
Manning
Ayesha
A
Khan
Michael A
MA
Laffan
D000328:Adult; D000990:Antithrombin III / Q000235:genetics* / Q000378:metabolism; D020152:Antithrombin III Deficiency / Q000235:genetics / Q000378:metabolism; D001665:Binding Sites / Q000235:genetics; D005260:Female; D006493:Heparin / Q000008:administration & dosage / Q000378:metabolism* / Q000627:therapeutic use; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism*; D017422:Sequence Analysis, DNA; D013923:Thromboembolism / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism*
C080016:antithrombin III Nagasaki; D000990:Antithrombin III; D006493:Heparin