Homozygous Antithrombin Deficiency in Adolescents Presenting With Lower Extremity Thrombosis and Renal Complications Two Case Reports From Turkey

SARPER N., Orlando C., DEMİRSOY U., Gelen S., Jochmans K.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.36, no.3, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 3
  • Publication Date: 2014
  • Doi Number: 10.1097/mph.0000000000000033
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: antithrombin deficiency, thrombosis, heparin-binding site defects, Leu131Phe mutation, POLYMERIZATION, MUTATIONS, SEVERITY
  • Kocaeli University Affiliated: Yes


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.