International registry on factor XIII deficiency: a basis formed mostly on European data

Thromb Haemost. 2007 Jun;97(6):914-21.

Abstract

FXIII deficiency is known as one of the rarest blood coagulation disorders. In this study, the phenotypic and in part genotypic data of 104 FXIII-deficient patients recorded from 1993 - 2005 are presented. The most common bleeding symptoms were subcutaneous bleeding (57%) followed by delayed umbilical cord bleeding (56%), muscle hematoma (49%), hemorrhage after surgery (40%), hemarthrosis (36%), and intracerebral bleeding (34%). Prophylactic treatment was initiated in about 70% of all patients. FXIII-B subunit-deficient patients had a milder phenotype than patients with FXIII-A subunit deficiency. The most frequent mutation affecting the F13A gene was a splice site mutation in intron 5 (IVS5-1G>A). This mutation was found in eight (17%) of 46 analyzed families. The haplotype analysis of patients carrying the IVS5-1A allele was consistent with a founder effect. The international registry (http://www.f13-database.de) will provide clinicians and scientists working on FXIII deficiency with a helpful tool to improve patient care and direct future studies towards better understanding and treatment of the disease.

Publication types

  • Multicenter Study

MeSH terms

  • Abortion, Spontaneous / blood
  • Abortion, Spontaneous / genetics
  • Adult
  • Blood Coagulation / genetics*
  • Coagulants / therapeutic use
  • Europe
  • Factor XIII / genetics*
  • Factor XIII / metabolism
  • Factor XIII Deficiency / blood
  • Factor XIII Deficiency / complications
  • Factor XIII Deficiency / drug therapy
  • Factor XIII Deficiency / genetics*
  • Female
  • Founder Effect
  • Genotype
  • Haplotypes
  • Hemorrhage / blood
  • Hemorrhage / genetics*
  • Humans
  • International Cooperation*
  • Internet
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Pregnancy
  • Registries*
  • Surveys and Questionnaires
  • Treatment Outcome
  • Wound Healing / genetics

Substances

  • Coagulants
  • Factor XIII