Letters to the Editors: Thrombophilia Caused by Inheritable Deficiency of Blood Antithrombin

Egeberg, O.

doi:10.3109/00365516509077290

Cited by 45 publications

(28 citation statements)

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“…Antithrombin (AT) deficiency was the first inherited thrombophilia to be described in 1965 14. Since then, multiple reports have documented the association between inherited AT deficiency and an increased rate of VTE 15.…”

Section: Introductionmentioning

confidence: 99%

Prevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency

James¹,

Konkle²,

Bauer

2013

IJWH

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ObjectiveThe aims of the study reported here were to provide data from six pregnant subjects who were enrolled in a clinical trial of antithrombin (AT) concentrate, discuss other published case series and case reports, and provide general guidance for the use of AT concentrate for inherited AT deficiency in pregnancy.MethodsIn the late 1980s, 31 AT-deficient subjects were enrolled in a prospective treatment trial of the plasma-derived AT concentrate Thrombate III®. Herein, newly available treatment data about the six pregnant subjects in the trial is tabulated and summarized.ResultsAll six experienced venous thromboembolism (VTE) during pregnancy, were dosed according to a weight-based protocol, and were treated concomitantly with anticoagulation. Loading doses of AT concentrate of 54–62 units/kg were followed by maintenance doses of 50%–100% of the loading dose for 3–10 days. At the time of labor, loading doses of 46–50 units/kg were followed by maintenance doses of 50%–75% of the loading dose for 5–7 days. None of the six experienced recurrent thrombosis while receiving treatment with AT concentrate.ConclusionCurrently we suggest that women with AT deficiency who are pregnant or postpartum and have a personal history of VTE or current VTE receive AT concentrates.

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Section: Introductionmentioning

confidence: 99%

Prevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency

James¹,

Konkle²,

Bauer

2013

IJWH

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“…The gene is rich in Alu repeat elements, with nine complete and one partial repeats in its intronic regions (Olds et al 1993). Hereditary AT deficiency (MIM 107300) is an autosomal disorder which increases the risk for recurrent venous thromboembolism (VTE) (Egeberg 1965;Van Boven et al 1999;Lijfering et al 2009). …”

Section: Introductionmentioning

confidence: 99%

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency

et al. 2009

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Methods routinely used for investigating the molecular basis of antithrombin (AT) deficiency do not detect large SERPINC1 rearrangements. Between 2000 and 2008, 86 probands suspected of having AT-inherited type I deficiency were screened for SERPINC1 mutations in our laboratory. Mutations causally linked to the deficiency were identified by sequencing analysis in 63 probands. We present here results of multiplex ligation-dependent probe amplification (MLPA) analysis performed in 22 of the 23 remaining probands, in whom sequencing had revealed no mutation. Large deletions, present at the heterozygous state, were detected in 10 patients: whole gene deletions in 5 and partial deletions removing either exon 6 (n = 2), exons 1-2 (n = 1) or exons 5-7 (n = 2) in 5 others. Exon 6 partial deletions are a 2,769-bp deletion and a 1,892-bp deletion associated with a 10-bp insertion, both having 5' and/or 3' breakpoints located within Alu repeat elements. In addition, we identified the 5' breakpoint of a previously reported deletion of exons 1-2 within an extragenic Alu repeat. Distinct mutational mechanisms explaining these Alu sequence-related deletions are proposed. Overall, in this series, large deletions detected by MLPA explain almost half of otherwise unexplained type I AT-inherited deficiency cases.

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“…Virchow further predicted that intrinsic factors in the blood promoted thrombosis in the arterial and venous circulations. The first such prothrombotic blood factor was not discovered for 117 years when, in 1965, Egeberg [50] described recurrent thromboembolism in association with antithrombin deficiency. The second form of thrombophilia, protein C deficiency, was reported in 1981 [51].…”

Section: Risk Factors For Thrombosis In Childrenmentioning

confidence: 97%

Thrombosis during infancy and childhood: what we know and what we do not know

Journeycake

Manco‐Johnson

2004

Hematology/Oncology Clinics of North America

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Letters to the Editors: Thrombophilia Caused by Inheritable Deficiency of Blood Antithrombin

Cited by 45 publications

References 0 publications

Prevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency

Prevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency

Thrombosis during infancy and childhood: what we know and what we do not know

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