Cross-reacting Material-positive Hemophilia A Diagnosed in a Patient with a Spontaneous Thigh Hemorrhage

Intern Med. 2017;56(13):1719-1723. doi: 10.2169/internalmedicine.56.7487. Epub 2017 Jul 1.

Abstract

A 53-year-old man, who had been diagnosed with mild hemophilia A (HA) at 35 years of age, was hospitalized with a thigh hematoma. His bleeding continued despite the administration of recombinant factor VIII (FVIII). The results of an FVIII/von Willebrand factor binding assay were normal. The patient's FVIII coagulant activity (FVIII:C) was low, but his FVIII antigen levels were within the normal limits, suggesting FVIII protein dysfunction. The FVIII:C measurements obtained by one-stage clotting and chromogenic assays were different. An FVIII gene analysis revealed a missense mutation p.Ser308Leu, which is rare in Japan. This case highlights that gene analyses and chromogenic assays are necessary to interpret the discrepancies between FVIII:C and the bleeding phenotype of patients with mild HA.

Keywords: dysfunctional factor VIII protein; mild hemophilia A.

Publication types

  • Case Reports

MeSH terms

  • Blood Coagulation
  • Blood Coagulation Tests
  • Drug Combinations
  • Factor VIII / genetics
  • Factor VIII / therapeutic use
  • Hemophilia A / complications*
  • Hemophilia A / diagnosis*
  • Hemophilia A / genetics
  • Hemophilia A / therapy
  • Hemorrhage / etiology*
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation, Missense
  • Phenotype
  • Thigh*
  • von Willebrand Factor / therapeutic use

Substances

  • Drug Combinations
  • factor VIII, von Willebrand factor drug combination
  • von Willebrand Factor
  • recombinant factor VIII SQ
  • F8 protein, human
  • Factor VIII