Autosomal recessive deficiencies of coagulation factors

Rev Clin Exp Hematol. 2001 Dec;5(4):369-88. doi: 10.1046/j.1468-0734.2001.00051.x.

Abstract

Deficiencies of coagulation factors that cause a bleeding disorder, other than factor VIII and factor IX, are inherited as autosomal recessive traits and are generally rare, with prevalence in the general population varying between 1 in 500 000 and 1 in 2 000 000. In the last few years, the number of patients with recessively transmitted coagulation deficiencies has increased in European countries with a high rate of immigration of Islamic populations where consanguineous marriages are frequent. As a consequence of the relative rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects and the actual management of bleeding episodes are not as well established as for hemophilia A and B. This article reviews these disorders, in terms of clinical manifestations and characterization of the molecular defects. The general principles of management are also discussed.

Publication types

  • Review

MeSH terms

  • Blood Coagulation Disorders, Inherited / epidemiology
  • Blood Coagulation Disorders, Inherited / genetics*
  • Blood Coagulation Disorders, Inherited / pathology
  • Blood Coagulation Factors / genetics*
  • Coagulation Protein Disorders / genetics*
  • Family Health
  • Genes, Recessive
  • Hemorrhage / epidemiology
  • Hemorrhage / etiology
  • Hemorrhage / pathology
  • Humans
  • Iran / epidemiology
  • Italy / epidemiology
  • Mutation
  • United Kingdom / epidemiology

Substances

  • Blood Coagulation Factors