Background
Haemophilia B is an X-linked inherited disorder, which affects blood coagulation due to a lack of active coagulation factor IX. Bleeds can occur internally, into joints and muscles, or externally, from minor cuts or surgeries. The severity depends on how much active factor IX is present in the plasma. Different mutations in the gene encoding factor IX are known in different dog breeds. In Rhodesian Ridgebacks, a mutation was identified, which leads to a severe form of haemophilia B in this breed.
Test specific information
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Age
?Early onset? ? This phrase indicates, that the symptoms of the disease can be detected at a lower age. ?Early onset? is the opposite of ?late onset?, in which symptoms may be present at later ages. The phrases are used because the mutation causing ?early onset? symptoms may be different compared to the mutations causing ?late onset? symptoms.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
This disease affects the composition of the blood, consequently influencing the coagulation of blood.
Breed dependence
This DNA test is available for the following breeds: Rhodesian Ridgeback .
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Swab, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
Result
The following results are possible for a female: the mode of
Inheritance
is based on recessive or dominant patterns.The following results are possible for a male:
- A male animal has the sex chromosome Y and a healthy allel. When used in breeding, this animal will not become affected by the disease, nor will the disease be inherited to the next generation.
- A male animal has the sex chromosome Y and a disease allel. When used in breeding, this animal will become affected by the disease. Also, male offspring will receive the Y-chromosome, whereas female offspring will receive the disease allele.
Inheritance
The disease is inherited in an X-chromosomal manner. This means, that female individuals can be free (homozygous normal), affected (homozygous affected) or carrier (heterozygous). Male individuals carry only one copy of the X-chromosome, which results in the effect that male carriers will also be affected. Female carriers may spread the disease in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a disease.
Severity of Disease
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