Factor XI deficiency
Similar to citrullinemia, uridine monophosphate synthase deficiency, complex vertebral malformation and leukocyte adhesion deficiency, this genetic disease is autosomal recessive and breed specific. The deficiency is due to a genetic mutation which results in insertion of 15 nucleotides in the bovine F11 gene.
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. In pregnant cows, abortion and failure to conceive have been observed. Mummified calf fetuses are commonly reported. Mastitis has also been recorded in pregnant cows.
Diagnosis is based on PCR analysis (polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)) of suspect cases and for screening of potential sires.
Treatment is usually unsuccessful. The only way to avoid the economic losses is early detection of DUMPS carriers.
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.
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- 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