Murine alpha thalassemia: effects on development and hemoglobin synthesis

Journal Article · Mon Jan 01 04:00:00 EST 1979 · Genetics; (United States)

OSTI ID:5372522

Popp, R A; Bradshaw, B S; Skow, L C

Human alpha thalassemia is a congential disease causing a deficiency in the synthesis of alpha chains of hemoglobin. Homozygous individuals (hydrops fetalis) usually die during late pregnancy. Alpha thalassemia in mice has been induced by X-irradiation of males. Clinical symptoms in heterozygous mice are similar to those in man, e.g. microcytosis, reticulocytosis, poikilocytosis and hypochromia. Genetic studies showed that all viable alpha thalassemic progeny of matings of alpha thalassemic females and males were heterozygotes. Examination of preimplantation blastocysts flushed from the uterus of alpha thalassemic females at 86 hours after mating with alpha thalassemic males showed that about three-fourths of the embryos were composed of more than 32 blastomeres and had reached the early blastocyst stage while the remaining one-fourth of the embryos were composed of 32 or less blastomeres and were still at the morula stage of development. About one-fourth of the implantation sites did not contain live fetuses at 11 to 15 days of development. Histological examination at 5 to 8 days of gestation showed that the homozygous alpha thalassemic embryos implanted and developed to the late blastocyst stage when they became necrotic. At 11 to 15 days of development, the primitive nucleated erythrocytes appeared to be normal. However, the anucleated erythrocytes, which differentiate in the fetal liver, of alpha thalassemic fetuses contained abnormal eosinophilic inclusions that may be aggregations of beta chain polypeptides. The electrophoretic pattern of hemoglobins from alpha thalassemic fetuses and adults are distinguishable from those of their normal littermates. The differences can be explained on the basis of deficient alpha chain synthesis and the different affinities of the various kinds of alpha and non-alpha chains during the assembly of polypeptides of the tetrameric hemoglobin molecule.

• Research Organization: Oak Ridge National Lab., TN
• DOE Contract Number: W-7405-ENG-26
• OSTI ID: 5372522
• Journal Information: Genetics; (United States), Journal Name: Genetics; (United States) Vol. 91:4; ISSN GENTA
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
560152 -- Radiation Effects on Animals-- Animals
59 BASIC BIOLOGICAL SCIENCES
63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
ANEMIAS
ANIMALS
BIOLOGICAL MODELS
BIOLOGY
BIOSYNTHESIS
CARBOXYLIC ACIDS
DISEASES
ELECTROMAGNETIC RADIATION
ELECTROPHORESIS
GENETICS
GLOBIN
HEMIC DISEASES
HEMOGLOBIN
HETEROCYCLIC ACIDS
HETEROCYCLIC COMPOUNDS
IONIZING RADIATIONS
MAMMALS
MICE
MUTANTS
ONTOGENESIS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
PATHOLOGICAL CHANGES
PIGMENTS
PORPHYRINS
PROGENY
PROTEINS
RADIATIONS
RODENTS
SYMPTOMS
SYNTHESIS
THALASSEMIA
VERTEBRATES
X RADIATION