Antithrombin Krakow II (c.624+1 G > T): A novel mutation leading to type 1 antithrombin deficiency

Blood Coagulation and Fibrinolysis

Volumn 23, Issue 5, 2012, Pages 454-455

  Celinska Löwenhoff, Magdalena ^a   Iwaniec, Teresa ^a   Alhenc Gelas, Martine ^c   Musial, Jacek ^a   Undas, Anetta ^a,b  

^a II Department of Internal Medicine   (Poland)

^b JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^c HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

antithrombotic prophylaxis; deep vein thrombosis; gene mutation; hereditary antithrombin deficiency; pulmonary embolism

Indexed keywords

ACENOCOUMAROL; ANTITHROMBIN; ANTIVITAMIN K; BLOOD CLOTTING FACTOR 5 LEIDEN; ENOXAPARIN; HEPARIN; LOW MOLECULAR WEIGHT HEPARIN;

3' UNTRANSLATED REGION; ADULT; AMINO ACID SUBSTITUTION; ANKLE INJURY; ANTITHROMBIN DEFICIENCY; ANTITHROMBIN KRAKOW II; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DEEP VEIN THROMBOSIS; DOPPLER ECHOGRAPHY; EXON; FAMILY HISTORY; GENE LOCATION; HEART RIGHT VENTRICLE OVERLOAD; HETEROZYGOSITY; HUMAN; INFERIOR CAVA VEIN; INFORMED CONSENT; INTERNATIONAL NORMALIZED RATIO; LUNG EMBOLISM; MALE; PATIENT REFERRAL; POINT MUTATION; PRIORITY JOURNAL; PROPHYLAXIS; RISK FACTOR;

ADULT; ANTICOAGULANTS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FIBRIN; HEPARIN, LOW-MOLECULAR-WEIGHT; HETEROZYGOTE; HUMANS; MALE; MUTATION; PULMONARY EMBOLISM; VENOUS THROMBOSIS;

EID: 84863331223     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32835361a7     Document Type: Article

References (8)

1. Patnaik MM, Moll S. Inherited antithrombin deficiency: a review. Haemophilia 2008; 14:1229-1239.
2. Sharpe CJ, Crowther MA, Webert KE, Donnery C. Cerebral Venous Thrombosis during pregnancy in the setting of Type I Antithrombin deficiency: case report and literature review. Transfus Med Rev 2011; 25:61-65.
3. Lane DA, Bayston T, Olds RJ, Fitches AC, Cooper DN, Millar DS, et al. Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1997; 77:197-211. (Pubitemid 27064991)
4. Picard V, Chen JM, Tardy B, Aillaud MF, Boiteux-Vergnes C, Dreyfus M, et al. Detection and characterization of large SERPINC1 deletions in type I inherited antithrombin deficiency. Hum Genet 2010; 127:45-53.
5. Picard V, Nowak-Göttl U, Biron-Andreani C, Fouassier M, Frere C, Goualt-Heilman M, et al. Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene. Hum Mutat 2006; 27:600.
6. Celińska-Löwenhoff M, Iwaniec T, Alhenc-Gelas M, Musia J, Undas A. Arterial and venous thrombosis and prothrombotic fibrin clot phenotype in a Polish family with type 1 antithrombin deficiency (antithrombin Krakow). Thromb Haemost 2011; 106:379-381.
7. Cacciapuoti F. Some considerations about hypercoagulable states and their treatments. Blood Coagul and Fibrinolysis 2011; 22:155-159.
8. Tomkowski WZ, Dybowska M, Kuca P, Gralec R, Burakowski J. The inefficacy of enoxaparin prophylaxis in a patient with congenital antithrombin deficiency. Clin Appl Thromb Hemost 2009; 15:241.