Peer-reviewed veterinary case report
Genetic cause of severe Hemophilia A in Rhodesian Ridgebacks
By Kehl, Alexandra et al.·Published in Genes·2021·Laboklin GmbH&Co.KG, Germany·View original on PubMed →
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Original publication title: A SINE Insertion inGene Leads to Severe Form of Hemophilia A in a Family of Rhodesian Ridgebacks.
- Species:
- dog
Plain-English summary
Two male Rhodesian Ridgebacks were diagnosed with Hemophilia A, a condition that affects blood clotting and can lead to excessive bleeding. Genetic testing revealed a specific mutation that caused their low levels of a crucial clotting factor. The study identified unaffected female relatives who carry the gene, allowing breeders to make informed decisions to prevent future cases in the family. With this knowledge, the goal is to reduce the occurrence of Hemophilia A in future litters.
People also search for: Rhodesian Ridgeback hemophilia A · dog bleeding disorders · genetic testing for dogs · breeding advice for hemophilia in dogs
Abstract
Hemophilia A is the most common coagulation factor disorder in humans and dogs. The disease is characterized by the lack or diminished activity of Factor VIII (FVIII), caused by variants in thegene and inherited as an X chromosomal trait. Two related male Rhodesian Ridgebacks were diagnosed with Hemophilia A due to reduced FVIII activity. The purpose of the study was to determine the genetic cause and give breeding advice for the remaining family members in order to eradicate the variant. By Sanger sequencing a short interspersed nuclear element (SINE) insertion in exon 14 of thegene was found. Perfect correlation of this genetic variant with clinical signs of hemophilia A in the family tree, and the lack of this genetic variant in more than 500 unrelated dogs of the same and other breeds, confirms the hypothesis of this SINE being the underlying genetic cause of Hemophilia A in this family. The identification of clinically unaffected female carriers allows subsequent exclusion of these animals from breeding, to avoid future production of clinically affected male offspring and more subclinical female carriers.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/33494213/