Factor X Roma: a congenital factor X variant defective at different degrees in the intrinsic and the extrinsic activation

Br J Haematol. 1988 Jul;69(3):387-91. doi: 10.1111/j.1365-2141.1988.tb02378.x.

Abstract

A factor X molecular variant was identified in a 13-year-old girl affected by a bleeding tendency. Factor X antigen levels and activation by Russel's viper venom (tested both by clotting and amidolytic assays) were normal. Factor X crossed immunoelectrophoresis was found to be identical to that of the control plasma. Factor X functional activity was low (3% of the normal) if tested by PTT-derived assays, whereas it was found at intermediate levels (about 30-50% of the normal) if measured by prothrombin time-derived assays. The defect in the extrinsic activation was more clearly disclosed using as activating agent thromboplastin from ox brain. The factor X of the patient was completely adsorbed by aluminum hydroxide. The parents of the propositus (first degree cousins) showed factor X functional levels compatible with a condition of heterozygosity for the abnormality. This factor X molecular variant appears different from the other ones so far described and was named 'Factor X Roma'.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Antigens / analysis
  • Factor X / immunology
  • Factor X / metabolism
  • Factor X Deficiency / physiopathology*
  • Female
  • Hemorrhagic Disorders / blood
  • Humans
  • Hypoprothrombinemias / physiopathology*

Substances

  • Antigens
  • Factor X