
Testing of dogs: Afibrinogenaemia
Afibrinogenaemia in Dachshund Miniature Wire-haired
Afibrinogenemia, a complete absence of fibrinogen in the blood, is a serious blood clotting disorder. Affected individuals often suffer from severe or prolonged bleeding, may develop subcutaneous hematomas, repeated episodes of bleeding from the nose, gums or digestive tract, and in puppies sometimes even bleeding from the navel after birth. Any bleeding injury or invasive medical procedure can be life-threatening for the dog.
In miniature wire-haired dachshunds, the disease is caused by the c.1665delT mutation in the FGA gene, which encodes the alpha chain of fibrinogen.
The mode of inheritance of the mutation is autosomal recessive. It is manifested only in an individual who has inherited the mutated allele from both parents (recessive homozygous). A heterozygote is an individual who has received the mutated allele from only one of its parents, does not show any symptoms of the disease and is clinically healthy. However, it can transmit the mutated allele to its offspring. In the case of mating two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% will inherit the mutated allele from both parents and will therefore be affected by this defect.
A genetic test can clearly reveal the genotype of the animal and is a suitable tool for breeders to prevent the unintentional reproduction of affected puppies.
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References:
Mischke, R., Metzger, J., Distl, O. : An FGA frameshift variant associated with afibrinogenemia in Dachshunds. Genes (Basel) 12:1065, 2021. Pubmed reference: 34356081. DOI: 10.3390/genes12071065



