Conditions / Genetic

thrombophilia due to HRG deficiency

info ยท Genetic

A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3.

Signs and symptoms

  • Decreased level of histidine-rich glycoprotein
  • Recurrent thromboembolism
  • Hypercoagulability
  • Abnormal thrombosis

Also known as: THPH11; hereditary thrombophilia due to congenital HRG deficiency; hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency