Factor XI deficiency

From Cow
Follicle size in normal and Factor XI affected cows. Ultrasound scanning was used to monitor the size of follicles in 6 normal and 6 affected cows after treatment with cloprostenol to induce ovulation. Mean sizes of follicles in affected animals are substantially smaller up to and including the time of ovulation.

Factor XI deficiency is a rare genetic coagulopathy of cattle worldwide[1] due to a deficiency in factor XI, and important protein in the coagulation cascade.

The disease has been reported in Holstein, Holstein-Friesian and Wagyu[2] breeds in Japan[3], Canada, England and Australia..

Similar to citrullinemia, uridine monophosphate synthase deficiency, complex vertebral malformation and leukocyte adhesion deficiency, this genetic disease is autosomal recessive and breed specific[4]. The deficiency is due to a genetic mutation which results in insertion of 15 nucleotides in the bovine F11 gene[5].

Carrier cattle (heterozygotes) are usually subclinically affected with mild hemophilia-like disorders. While affected calves can survive for years with no overt clinical signs, they do appear to have higher mortality and morbidity, and often present with bleeding from the umbilicus, epistaxis, hemoptysis, hypogenesis syndrome and neonatal weak calf syndrome[6]. In pregnant cows, abortion and failure to conceive have been observed. Mummified calf fetuses are commonly reported[7]. Mastitis has also been recorded in pregnant cows[8].

Diagnosis is based on PCR analysis (polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)) of suspect cases and for screening of potential sires[9].

A differential diagnosis would include other causes of abortion such as neonatal pancytopenia, bovine epizootic abortion and listeriosis.

Treatment is usually unsuccessful. The only way to avoid the economic losses is early detection of DUMPS carriers[10].

As artificial insemination is widely used in dairy cattle breeding, carriers of citrullinemia are likely present within the population of breeding sires. It is recommended to screen breeding sires for these defective genes in order to avoid an unwanted spread within the population[11].

References

  1. Windsor P & Agerholm J (2009) Inherited diseases of Australian Holstein-Friesian cattle. Aust Vet J 87(5):193-199
  2. Ohba Y et al (2008) Pedigree analysis of factor XI deficiency in Japanese black cattle. J Vet Med Sci 70(3):297-299
  3. Ghanem ME & Nishibori M (2009) Genetic description of factor XI deficiency in holstein semen in Western Japan. Reprod Domest Anim 44(5):792-796
  4. Sun DX et al (2011) Short communication: Distribution of recessive genetic defect carriers in Chinese Holstein. J Dairy Sci 94(11):5695-5698
  5. Kunieda M et al (2005) An insertion mutation of the bovine Fii gene is responsible for factor XI deficiency in Japanese black cattle. Mamm Genome 16(5):383-389
  6. Watanabe D et al (2006) Carrier rate of Factor XI deficiency in stunted Japanese black cattle. J Vet Med Sci 68(12):1251-1255
  7. Ghanem ME et al (2005) DNA extraction from bovine mummified fetuses and detection of factor XI gene deficiency in the mummies. J Reprod Dev 51(3):347-352
  8. Gurgul A et al (2009) Identification of carriers of the mutation causing coagulation factor XI deficiency in Polish Holstein-Friesian cattle. J Appl Genet 50(2):149-152
  9. Meydan H et al (2010) Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey. Acta Vet Scand 52:56
  10. Kaminski S et al (2005) No incidence of DUMPS carriers in Polish dairy cattle. J Appl Genet 46(4):395-397
  11. Meydan H et al(2010) Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey. Acta Vet Scand 52:56