Hereditary Stomatocytosis With Hemolytic Anemia in the Dog

An autosomal recessive mutant (symbol, dan) in the dog causes chondrodysplastic dwarfism and mild anemia as pleiotropic effects. The anemia is characterized by stomatocytosis, macrocytosis, low MCHC, increased osmotic fragility, shortened red cell survival, reticulocytosis, erythroid hyperplasia, an...

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Bibliographic Details
Published in:Blood 1974-10, Vol.44 (4), p.557-567
Main Authors: Pinkerton, Peter H., Fletch, Sheilah M., Brueckner, Peter J., Miller, Denis R.
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - blood
Anemia, Hemolytic - blood
Anemia, Hemolytic - genetics
Anemia, Hemolytic - veterinary
Animals
Blood Protein Electrophoresis
Bone Marrow Examination
Cell Survival
Chromium Radioisotopes
Diphosphoglyceric Acids - blood
Dog Diseases - blood
Dog Diseases - genetics
Dogs
Erythrocyte Aging
Erythrocytes - enzymology
Erythrocytes - ultrastructure
Erythrocytes, Abnormal
Glutathione - blood
Hemosiderin - urine
Histocompatibility
Homozygote
Iron Radioisotopes
Microscopy, Electron
Microscopy, Electron, Scanning
Osmotic Fragility
Phenotype
Potassium - blood
Sodium - blood
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Summary:An autosomal recessive mutant (symbol, dan) in the dog causes chondrodysplastic dwarfism and mild anemia as pleiotropic effects. The anemia is characterized by stomatocytosis, macrocytosis, low MCHC, increased osmotic fragility, shortened red cell survival, reticulocytosis, erythroid hyperplasia, and increased iron turnover. Minor changes can be detected in the red cells of heterozygous carriers of the dan gene, but red cell survival is normal and chondrodysplasia is not present. Red cell sodium concentration and water content are increased in anemic dogs and to a lesser degree in carriers. Glutathione deficiency is present. The disorder described here resembles a number of human hemolytic anemias with stomatocytosis, glutathione deficiency, and disordered red cell cation and water content, and further study of the dan mutant, together with investigations of the hereditary human conditions, will elucidate the maintenance of normal red cell cation balance.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V44.4.557.557