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Peer-reviewed veterinary case report

Pyruvate kinase deficiency and blood types in Australian Abyssinian

By Barrs, V R et al.·Published in Australian veterinary journal·2009·Faculty of Veterinary Science, United Kingdom·View original on PubMed

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Original publication title: Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats.

Species:
cat

Plain-English summary

A group of Australian Abyssinian and Somali cats were tested for a genetic condition called erythrocytic pyruvate kinase deficiency, which can cause anemia and lethargy. Out of 60 cats, three Somali cats were found to be affected, showing signs like low energy and high levels of immature red blood cells. One of these affected cats had to be euthanized due to severe anemia and weight loss. The study suggests that screening for this genetic issue is important before breeding these cats, even if they seem healthy.

People also search for: Abyssinian cat lethargy · Somali cat anemia symptoms · pyruvate kinase deficiency in cats

Abstract

OBJECTIVE: To determine the frequency of the mutant pyruvate kinase (PK) allele, haematological parameters and AB blood types of Abyssinian and Somali cats in Australia. DESIGN: Complete blood cell and reticulocyte counts, DNA PK mutation testing and blood typing were performed in all cats. RESULTS: A total of 60 cats (36 Abyssinians, 24 Somalis) were included (37 females, 23 males). For the mutant PK allele, three female Somalis were homozygous (affected, 5%), 17 cats were heterozygous (carrier, 28%) and 40 cats tested negative (normal, 67%). Pedigree analysis revealed common ancestry of affected and many carrier cats. Of affected cats, two had regenerative anaemias and all had reticulocytosis (range 64-390 x 10(9)/L; P < 0.001 compared with normal or carrier cats). The only consistent historical sign was lethargy. One affected cat was euthanased 18 months after testing, because of anaemia, neutropenia, anorexia and weight loss. The mutant allele frequency was 0.19 overall (0.29 in Somalis, 0.13 in Abyssinians). All cats had blood type A. The commercial blood typing card method incorrectly identified 12 cats as having type AB blood. CONCLUSIONS: The frequency of the mutant PK allele is high in Australia. Screening for PK deficiency is indicated before mating and in individual cats of these breeds, even in the absence of anaemia and especially when there is reticulocytosis. Although all cats in the present study had blood type A, blood type B is common in these breeds worldwide. Retyping of any AB typed cats by a laboratory technique is recommended.

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Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/19178476/