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Afibrinogenemia (AFG) - a fibrinogen bleeding disorder in Dachshund
| Acronym: | AFG |
| Gene: | FGA |
| Mutation: | c.1665delT |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Afibrinogenemia (AFG) is a genetic congenital fibrinogen disorder, a disease that is part of bleeding disorders including deficiency, absence or dysfunctional fibrinogen. Cases of AFG have been reported in different dog breeds including Bernese Mountain, Cocker Spaniel, Collie and St. Bernard dogs, but Dachshund is the dog breed with the highest incidence. Afibrinogenemia often manifests in neonates and is usually lethal or it may also develop later in life with bleeding abnormalities. Non-functional fibrinogen is a consequence of a specific mutation in the FGA gene causing severe bleeding episodes that can lead to death.
This severe fibrinogen bleeding disorder is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify carriers and prevent the future development of this potentially lethal disorder in puppies.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Mischke, R., Metzger, J., & Distl, O. (2021). An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds. Genes, 12(7), 1065. https://doi.org/10.3390/genes12071065