University of Pennsylvania

The University of Pennsylvania Section of Medical Genetics has been involved in the discovery of hereditary diseases in companion animals for several decades and has developed and established a diagnostic laboratory test to accurately detect affected/diseased animals as well as carriers (asymptomatic heterozygotes). A particular area of interest and expertise of our group has been in the area of acquired and hereditary anemias. To this end, we have identified specific defects in the pyruvate kinase (PK) gene as well as phosphofructokinase (PFK) gene that are responsible for anemias in various breeds of dogs.

Since the 70s, it has been suspected that some beagles are anemic because of PK deficiency. A decade ago we characterized the biochemical and hematological abnormalities of this disorder in beagles. Affected beagles are severely anemic and generally die at a young age (before five years). They may not show lethargy, but do have pale gums and likely exercise intolerance. They also develop osteosclerosis (increased bone density). Most recently, we identified the precise mutation in the PK gene, which allowed us to develop a simple and accurate DNA test to not only identify affected beagles but also carriers for this disease. This test requires a small amount of EDTA-anticoagulated blood or a couple of cheek swabs obtained by using special cytology brushes.

We recommend PK testing of the following dogs:

1) anemic and diseased beagles (the only symptom of some affected beagles is pale gums); 2) relatives of anemic beagles (these may also be affected or carrier animals); and

3) any beagle intended for breeding whose parents have not been tested and found to be free ("clear") of the PK mutation.

This simple test needs to be done only once. Again, only a small amount of EDTA blood or two cheek swabs are needed. Results are available within four weeks of receiving the samples and will be kept strictly confidential.

A submission form with instructions is available at our website www.vet.upenn.edu/penngen. If you don’t have internet access, you can also request a submission form by sending your request with a self addressed, stamped envelope to: PennGen, VHUP 4006, 3900 Delancey Street, Philadelphia, PA 19104; by fax at 215-573-2162; or by phone at 215-898-8894.