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Cited by 51Hemoglobinopathies and Related DisordersIron Metabolism and DisordersErythrocyte Function and Pathophysiology

Characterization and genetic studies of microcytic anemia in house mouse.

RUSSELL, ELIZABETH S., NASH, DONALD J., BERNSTEIN, SELDON E., KENT, EDITH L., MCFARLAND, ELEANOR C., MATTHEWS, SUSAN M., NORWOOD, MARY S.·1970·Blood
DOI 10.1182/blood.v35.6.838.838
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Abstract

Abstract Microcytic anemia, inherited as a unit autosomal recessive, is the first of the twelve known single-gene induced hereditary anemias of the mouse which results entirely from alteration of individual erythrocytes rather than from reduction in number of red cells. At all ages where mk/mk individuals could be recognized, from the fifteenth day of gestation to adulthood, the erythrocyte count of mk/mk individuals was at least as high as that of normal counterparts. At all ages, the hemoglobin concentration in these small erythrocytes was also reduced, so that the total available hemoglobin was markedly reduced at all ages. The higher than normal numbers of erythrocytes in adult microcytic mice demonstrate that the cell-producing mechanisms operate efficiently. Genetic tests have shown that the mk single-gene defect has no relation to structure of either the α-chain or the β-chain of the hemoglobin molecule. The mk microcytosis and hypochromia must then result from a metabolic or structural defect independent both of the factors responsible for regulating red cell number and of those controlling hemoglobin structure. This mk/mk microcytic anemia shows some similarities to human thalassemias: hypochromia, microcytosis and presence of target cells, combined with splenomegaly, reticulocytosis, and higher than normal erythrocyte counts (like thalassemia minor). As in thalassemia, hemoglobin structure is normal, although the amount per cell is subnormal. Human hemolytic anemias also share some of these characteristics. The similarities of mk/mk microcytic anemia of the mouse to certain human anemias are sufficient to warrant its further investigation as an animal model for understanding of human hereditary disease.

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  • The microcytic anemia (mk) mouse strain had been carefully studied and shown to have a defect in intestinal iron absorption.

    “One in particular, microcytic anemia (mk), had been carefully studied and shown to have a defect in intestinal iron absorption.52”

    From Forging a field: the golden age of iron biology. (2008) · cites this paper as [52]

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Authors
RUSSELL, E. S., NASH, D. J., BERNSTEIN, S. E., KENT, E. L., MCFARLAND, E. C., MATTHEWS, S. M., & NORWOOD, M. S.
Affiliations
Jackson Laboratory (US)
ORCID
Venue
Blood
Publisher
American Society of Hematology
Published
1970-06-01
Volume
35
Issue
6
Pages
838-850
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
DOI
10.1182/blood.v35.6.838.838
OpenAlex
W1603236380
Cited by
51
References
9
Citations by year
2021: 1 · 2019: 1 · 2018: 1 · 2014: 1
FWCI
3.44
Type
journal article
Language
en
Open access
closed
Locations
  • Blood (publishedVersion)
  • PubMed (publishedVersion)
  • The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
Topics
  • Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
  • Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
  • Health Sciences › Medicine › Physiology › Erythrocyte Function and Pathophysiology
Keywords
microcytic anemia, house mouse, autosomal recessive inheritance, hereditary anemia, hypochromia, hemoglobin levels, red blood cell count, thalassemia, animal model of human disease, hemolytic anemia, reticulocytosis, splenomegaly
MeSH terms
Anemia, Anemia, Hemolytic, Congenital, Animals, Chromosome Aberrations, Disease Models, Animal, Erythrocyte Count, Erythrocytes, Abnormal, Genes, Recessive, Genotype, Hematocrit, Hemoglobinometry, Humans, Reticulocytes, Rodent Diseases, Splenomegaly, Thalassemia, Chromosome Disorders, Mice

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