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Haemophilia B (Lhasa Apso Type)

Description

Genetic basis - Caused by a complex deletion mutation in the F9 gene (Factor IX gene), specifically deletion of nucleotides 772-776 plus a C>T transition at nucleotide 777. This mutation leads to mRNA instability and a premature stop codon, resulting in a nonfunctional Factor IX protein. The F9 gene is located on the X chromosome, so the disorder is inherited in an X-linked recessive pattern. Male dogs with one mutated X chromosome are affected; females with one mutated copy are carriers

Pathophysiology - Deficiency of Factor IX results in impaired blood clotting, leading to prolonged bleeding and inability to form stable clots. This causes spontaneous bleeding and excessive bleeding following trauma or surgery.

Complications - Clinical signs include easy bruising, spontaneous hematomas, joint bleeding (hemarthrosis), prolonged bleeding after injury, and internal hemorrhage. Severe bleeding episodes can be life-threatening without appropriate intervention.

Why This Matters to Breeders and Vets - For breeders, genetic testing prevents producing puppies with a severe bleeding disorder, preserving breed health. Veterinarians use genetic and clinical information for early diagnosis and management of bleeding episodes. Understanding the X-linked recessive inheritance aids breeding decisions and owner education. Early intervention improves quality of life and survivability.

Recommended Breeding

Diseases

Haemophilia B (Lhasa Apso Type)

$ 50.00

1

Associated Breed(s):

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Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Haemolymphatic - Associated with the blood and lymph

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

F9

Variant Detected:

deletion of nucleotides 772-776 plus a C>T transition at nucleotide 777

Mode of Inheritance:

Autosomal X-Linked

OMIA Reference:

Click to View Full OMIA Reference