Equine glucose-6-phosphate dehydrogenase deficiency.
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.
Publication Date: 1994-09-01 PubMed ID: 7801429DOI: 10.1177/030098589403100503Google Scholar: Lookup
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Summary
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The research article presents a case of Glucose-6-phosphate dehydrogenase (G6PD) deficiency in an American Saddlebred colt, a condition that is widely studied in humans but not previously reported in horses, exhibiting persistent hemolytic anemia and hyperbilirubinemia accompanied by other erythrocyte abnormalities.
Introduction to G6PD Deficiency
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a well-documented, genetically inherited disorder in humans.
- The disorder affects the function of red blood cells causing anemia, a condition characterized by a lack of healthy red blood cells in the body, and hyperbilirubinemia, which is an excessive level of bilirubin, a waste material in the bloodstream
- In this research, a case of severe G6PD deficiency is reported in an American Saddlebred colt, a type of horse breed.
Erythrocyte Abnormalities in the Colt
- Various abnormal conditions were discovered in the colt’s red blood cells in comparison to healthy horses, such as increased activity of hexokinase and pyruvate kinase, decreased levels of reduced glutathione and NADP, and increased amounts of oxidized NADP.
- Morphological conditions including eccentrocytosis (a condition characterized by off-center, hemoglobin concentration within red blood cells), pyknocytosis (the presence of abnormally small and distorted red blood cells), anisocytosis (red blood cells of unequal sizes), macrocytosis (red blood cells larger than normal), and an increased number of Howell-Jolly bodies (residual fragments of DNA in circulating red blood cells) were also observed.
Microscopic Examination and Tests
- Scanning and transmission electron microscope examinations showed that the eccentrocytes had contracted to create spherical regions and thin, collapsed sections, and they appeared denser than normal red blood cells.
- The colt’s red blood cells, when exposed to acetylphenylhydrazine, produced more and smaller Heinz bodies (precipitated hemoglobin within red blood cells, usually due to oxidative stress) than normal horses.
Findings in the Colt’s Dam (Mother)
- Abnormalities were also noted in the colt’s dam, including the presence of eccentrocytes and pyknocytes – abnormally shrunk and irregularly shaped red blood cells.
- Her average red blood cell G6PD activity was somewhat below the reference range, suggesting a possible genetic link.
Cite This Article
APA
Stockham SL, Harvey JW, Kinden DA.
(1994).
Equine glucose-6-phosphate dehydrogenase deficiency.
Vet Pathol, 31(5), 518-527.
https://doi.org/10.1177/030098589403100503 Publication
Researcher Affiliations
- Department of Veterinary Pathology, University of Missouri-Columbia.
MeSH Terms
- Anemia, Hemolytic / blood
- Anemia, Hemolytic / enzymology
- Anemia, Hemolytic / etiology
- Anemia, Hemolytic / veterinary
- Animals
- Erythrocytes / ultrastructure
- Glucosephosphate Dehydrogenase / metabolism
- Glucosephosphate Dehydrogenase Deficiency / blood
- Glucosephosphate Dehydrogenase Deficiency / complications
- Glucosephosphate Dehydrogenase Deficiency / enzymology
- Glucosephosphate Dehydrogenase Deficiency / veterinary
- Horse Diseases / blood
- Horse Diseases / enzymology
- Horse Diseases / etiology
- Horses
- Hyperbilirubinemia / blood
- Hyperbilirubinemia / enzymology
- Hyperbilirubinemia / etiology
- Hyperbilirubinemia / veterinary
- Male
- Microscopy, Electron, Scanning / veterinary
Citations
This article has been cited 4 times.- Liu M, Ji S, Kondoh D, Galon EM, Li J, Tomihari M, Yanagawa M, Tagawa M, Adachi M, Asada M, Igarashi I, Iguchi A, Xuan X. Tafenoquine Is a Promising Drug Candidate for the Treatment of Babesiosis.. Antimicrob Agents Chemother 2021 Jun 17;65(7):e0020421.
- Eynan M, Tsitlovsky D, Batit L, Hochman A, Krinsky N, Abramovich A. Is glucose-6-phosphate dehydrogenase deficiency a risk factor for hyperbaric oxygen exposure?. Eur J Appl Physiol 2012 Jul;112(7):2549-56.
- Raudsepp T, Lee EJ, Kata SR, Brinkmeyer C, Mickelson JR, Skow LC, Womack JE, Chowdhary BP. Exceptional conservation of horse-human gene order on X chromosome revealed by high-resolution radiation hybrid mapping.. Proc Natl Acad Sci U S A 2004 Feb 24;101(8):2386-91.
- Thomas HL, Livesey MA. Immune-mediated hemolytic anemia associated with trimethoprim-sulphamethoxazole administration in a horse.. Can Vet J 1998 Mar;39(3):171-3.
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