Peer-reviewed veterinary case report
Equine glucose-6-phosphate dehydrogenase deficiency.
- Journal:
- Veterinary pathology
- Year:
- 1994
- Authors:
- Stockham, S L et al.
- Affiliation:
- Department of Veterinary Pathology
- Species:
- horse
Plain-English summary
A young American Saddlebred colt was found to have a genetic condition called glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is known to cause problems in humans but had not been reported in horses before. This condition led to ongoing issues with anemia (a low red blood cell count) and high levels of bilirubin in the blood, which can cause jaundice. Tests showed that the colt's red blood cells had several abnormalities compared to healthy horses, including changes in their shape and density. The colt's mother also showed some signs of this condition, with similar red blood cell changes and slightly lower G6PD activity. The treatment details and outcome were not provided, but the findings suggest that this genetic issue can affect horses as well as humans.
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a well-characterized X-linked inherited disorder in humans but has not been reported in horses. We describe a persistent hemolytic anemia and hyperbilirubinemia due to a severe G6PD deficiency in an American Saddlebred colt. Other abnormalities in the colt's erythrocytes as compared with those of healthy horses (n = 22-35) included increased activities of hexokinase and pyruvate kinase, decreased concentrations of reduced glutathione and reduced nicotinamide adenine dinucleotide phosphate (NADP), and increased concentration of oxidized NADP. Morphologic abnormalities included eccentrocytosis, pyknocytosis, anisocytosis, macrocytosis, and increased number of Howell-Jolly bodies. Scanning and transmission electron microscopic examinations revealed that eccentrocytes had contracted to spherical regions and thin collapsed regions. Eccentrocytes were more electron dense than were normal erythrocytes when examined by transmission electron microscopy. When exposed to acetylphenylhydrazine, erythrocytes from the G6PD-deficient colt produced more and smaller Heinz bodies than did erythrocytes from normal horses. Abnormalities in the colt's dam included presence of eccentrocytes and pyknocytes; her average erythrocyte G6PD activity was slightly below the range of reference values.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/7801429/