Hereditary Spherocytosis in the Deer Mouse. Its Similarity to the Human Disease

The hematologic and pathophysiologic consequences of a mutant recessive gene in the deer mouse produce features that are indistinguishable from hereditary spherocytosis in man. The syndrome in the mouse was characterized by neonatal jaundice, splenomegaly, spherocytosis and hemolytic disease which could be abolished by splenectomy. Red cell survival was shortened when the spleen was present and was normal or almost normal in splenectomized animals. Affected animals had a marked increase of gallstone formation at a young age. The intensity of neonatal jaundice as well as the tendency to gallstone formation among affected animals appeared to be under control of genetic modifiers. Hereditary spherocytosis in the mouse is identical pathophysiologically with the human syndrome, although inherited as a recessive trait. Biochemical heterogeneity and dominance modification are discussed as possible explanations for this genetic discrepancy.