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J Pediatr Hematol Oncol. 2014 Apr;36(3):e190-2. doi: 10.1097/MPH.0000000000000033.

Homozygous antithrombin deficiency in adolescents presenting with lower extremity thrombosis and renal complications: two case reports from Turkey.

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  • 1*Department of Pediatrics, Division of Pediatric Hematology, Kocaeli University, Turkey ‚ĆDepartment of Hematology, UZ Brussel Vrije Universiteit (VUB), Brussels, Belgium.


We present 2 cases of lower extremity deep venous thrombosis in 2 gypsy adolescents from related families. The patients had low antithrombin activity levels and inherited homozygous antithrombin deficiency was confirmed by molecular analysis (Leu131Phe mutation). One patient had a history of nephrectomy at the age of 9 due to nonfunctioning kidney and 2 siblings died at 4 months of age. His mother had 3 fetal losses in the third trimester. The other propositus had an elder sister who suffered from postpartum deep vein thrombosis and pulmonary embolism. Heterozygous mutation was demonstrated in both parents.

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