Rhodesian Ridgeback — classical haemophilia/hemophilia (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_rhodesian_ridgeback_classical_haemophilia_hemophilia_dog category: companion-breed-health title: "Rhodesian Ridgeback — classical haemophilia/hemophilia (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/rhodesian_ridgeback_classical_haemophilia_hemophilia_56.txt date_parsed: 2026-08-02 tokens_estimated: 269 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_rhodesian_ridgeback_classical_haemophilia_hemophilia_dog/01_companion_breed_health_rhodesian_ridgeback_classical_haemophilia_hemophilia_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Rhodesian Ridgeback — classical haemophilia/hemophilia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000437/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Rhodesian Ridgeback — classical haemophilia/hemophilia (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Rhodesian Ridgeback (Dog)
• Disorder: classical haemophilia/hemophilia
• Mode of inheritance: X-linked recessive
• Summary: The historical section of this entry is based on information in the review by Lozier and Nichols (2013). Some missing references were also gleaned from this review. FN is grateful to the authors for their very useful review.
• Clin feat: Dogs with haemophilia A present with spontaneous bleeding, including bleeding in soft tissue, joints (causing lameness) and body cavities. Excessive bleeding is reported after tooth extraction or after deciduous teeth are lost and after surgery (Mischke et al., 1996; Nichols et al., 2010). Coagulation analysis will show a markedly prolonged activated partial thromboplastin time (APTT) with a low factor VIII activity (Gavazza et al., 2014; Nishitani and Kitoh, 2021). Severity of clinical presentation varies between breeds. IT thanks DVM student Yi Fei Choong, who provided the basis of this contribution in May 2023.
• Defect: yes

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 403875 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), a likely causal mutation in the canine factor 8 gene (F8) was discovered: in the Queens University Miniature Schnauzer colony, an intronic inversion (omia.variant:363) that results in "aberrant splicing and premature termination of transcription of the FVIII gene, resulting in a polyadenyla…

Causal variant(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Variant: chromosome 1; nt change c.574-589del; pathogenicity class 1 — OMIA Variant / Variant_Phene

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 1975. Hemophilia A and hemophilia B in a family of French bulldogs. Tijdschr Diergeneeskd — PubMed:PMID1209580 — OMIA Phene_Article / Article
• 1948. Sex-linked hemophilia in dogs. Journal of Heredity — OMIA Phene_Article / Article
• 1938. Haemophile bij Honden. Journal Ned. Ind. Bladen v Diergeneesk en Dierant. — OMIA Phene_Article / Article
• 1957. Antihemophilic factor (AHF): plasma levels after administration of AHF preparations to haemophilic dogs. Proceedings of the Society for Experimental Biology and Medicine — PubMed:PMID13485042 — OMIA Phene_Article / Article
• 1965. Colony of Hemophilic Dogs. Science — PubMed:PMID17841958 | DOI:10.1126/science.150.3705.1766 — OMIA Phene_Article / Article
• 1967. Subluxation on the carpus in dogs: a genetic defect on the X-chromosome closely linked to the locus for hemophilia A. Federation Proceedings — OMIA Phene_Article / Article
• 1955. Hemophilic arthropathy in dogs. American Journal of Pathology — OMIA Phene_Article / Article
• 1977. Diagnosis of classic hemophilia (Hemophilia A) in a standard Poodle. Canadian Veterinary Journal — OMIA Phene_Article / Article
• 1975. Clearance of cryoprecipitated factor VIII in canine hemophilia A. American Journal of Veterinary Research — PubMed:PMID1124873 — OMIA Phene_Article / Article
• 1973. Canine hemophilia in Beagles: genetics, site of factor VIII synthesis, and attempts at experimental therapy. Haemophilia. Proceedings of the Seventh Congress of the World Federation of Haemophilia, May 17-20, 1971, Tehran, Iran — OMIA Phene_Article / Article
• 1963. Canine hemophilia-establishment of a new colony. Archives of Pathology — PubMed:PMID14054168 — OMIA Phene_Article / Article
• 1988. A study of hemophilia A in German Shepherd dogs in Denmark. Veterinary Clinics of North America, Small Animal Practice — OMIA Phene_Article / Article
• (129 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:306700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:300841 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."