What is Pyruvate Kinase Deficiency?

Pyruvate Kinase Deficiency (PKD);  Haemolytic Anaemia (HA) is a recessive disease that has affected Basenjis as far back as the first dogs exported from Africa. It was first, properly, diagnosed in the 1960s.  In 1972 a blood test was developed. The blood test was able to estbalish dogs that were carriers, affecteds and normals. Since then a DNA test has been developed. As a result of breeders testing stock the disease is now extremely rare and has been virtually eliminated from the breed. Nowadays, an idiopathic autoimmune type of HA, a non-inherited HA that appears in all dog breeds, is the most likely cause of any HA in Basenjis.

PKD is an inherited deficiency in the pyruvate kinase enzyme normally found in red blood cells. In simple terms the red blood cells need this enzyme to survive a normal duration in the blood stream. In affected animals the red blood cells are destroyed early leading to HA. This disease is fatal and affected dogs normally die by about 2 years – 4 years is normally the outer limit of survival.

Due to thorough testing and careful selection of breeding stock no puppy bred at Tambuzi will be affected by PKD.

It should be noted that another non hereditary form of anaemia (auto-immune anaemia or AIHA) has been found in Basenjis and many other dog breeds. This condition is however, rare in Basenjis. The dog’s system produces antibodies that attack it’s own red blood cells, causing the dog’s anaemia.  This type of anaemia is treatable and given the correct treatment dog a with it can recover.

What causes Pyruvate Kinase Deficiency?

PKD or HA is caused by the lack of the enzyme (pyruvate kinase) in the red blood cells of an affected animal. This enzyme is required for red blood cells to survive for a normal length of time. When the enzyme is missing the red blood cells break down and are destroyed prematurely.

What are the signs of Pyruvate Kinase Deficiency?

PKD is not pleasant and is fatal. Affected dogs will normally:

  • have low energy;
  • white gums;
  • may faint; and
  • a common symptom are “golden” coloured stools.

Dogs affected will typically succumb to the disease between the ages of 2-3 years old. A survival to 4 years is considered the outside age range for survival.

Due to thorough testing and careful selection of breeding stock no puppy bred at Tambuzi will be affected by PKD.

Tambuzi Health Management Program – PKD

It has been 30 years since testing by blood was conducted in Bendigo, Victoria. The ancestors of my kennel’s bloodline were tested normal. However,  with many breedings since then and the introduction of many lines into the ‘mix’ I have decided to test my dogs using the DNA resource. All dogs tested have been normal, as expected. Therefore, PKD (HA) is eliminated from Tambuzi.

  1. Mandatory: Breeding stock must be tested by the DNA test or be normal by parentage history before breeding.
  2. Acceptable Combinations: normal x normal, normal x carrier. These combinations will not result in affected offspring. All other combinations are not acceptable in my breeding program.
  3. Carriers: May only be bred to a normal. To maintain genetic diversity quality carriers will not be eliminated from my breeding program. Carriers ‘carry’ one copy of the mutant gene which may be transferred to offspring. Offspring may continue to carry one copy of the mutant gene but they will not become affected with the disease.

Disease Gene Mutation Information – Pyruvate Kinase Deficiency

Mutation: c.433delC
Gene: PKLR
Disease Code: PK
OMIM: 266200
OMIA: 000844-9615/9685
Chromosome: 7
Research Citation: J Am Vet Med Assoc. 1995 Oct 1;207(7):918-21
Synonyms/Related Terms: HA in Basenjis

Testing Laboratories:

This is not a complete list of labs that offer the DNA test for PKD.