Hereditary predisposition play an important role in thrombosis, especially in younger patients. Here we studied a young patient who experienced three different episodes of severe thromboses, some of which were life-threatening (pulmonary artery thrombosis, portal and mesenteric vein thrombosis, and arterial thrombosis of the lower leg). Blood levels of clotting related indicators were assessed. We screened 35 genes linked to thrombosis. We discovered a 756 kb duplication that spanned the F9 gene in region q27.1 of the X chromosome. The repeat includes the full F9 gene, thus, the patient had two functional copies of FIX with the FIX activity 192%. An identical repetition was found in the patient's mother. Both the patient and his mother had high, but variable, plasma FIX activities that promote coagulation. The patient's frequent, severe thrombolic events maybe attributed to the duplication of a big portion of the F9 gene and lupus anticoagulant positive.
Keyphrases
- pulmonary embolism
- case report
- pulmonary artery
- genome wide
- copy number
- coronary artery
- pulmonary hypertension
- systemic lupus erythematosus
- end stage renal disease
- newly diagnosed
- venous thromboembolism
- pulmonary arterial hypertension
- early onset
- atrial fibrillation
- gene expression
- transcription factor
- disease activity
- drug induced