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Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution
Ana Marco-Rico1,2, Pascual Marco-Vera2,3
1Hemostasis and Thrombosis Department, Hematology Service, University General Hospital Dr. Balmis, Alicante, Spain.
Congenital antithrombin (AT) deficiency is a high-risk thrombophilia, often causing early-onset thrombosis. Early diagnosis in families is crucial for managing this condition and preventing recurrent blood clots.
Area of Science:
- Hematology
- Genetics
- Vascular Medicine
Background:
- Congenital antithrombin (AT) deficiency is a significant risk factor for thrombosis.
- Clinical presentation varies based on family history and genetic mutation type.
- Inherited AT deficiency can lead to early-onset and atypical site thrombosis, including in pediatric patients.
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