Spectrin modifications in a heterozygous case of both hereditary elliptocytosis and beta-thalassemia

The clinical and hematological parameters of a patient described here, who inherited the genes of both hereditary elliptocytosis (HE) and beta-thalassemia, seem to reflect a mutual enhancement of the two diseases. The coexistence of the two pathologies is probably also responsible for the observed c...

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Bibliographic Details
Published inAmerican journal of hematology Vol. 33; no. 2; p. 123
Main Authors Streichman, S, Herz, E, Tatarsky, I
Format Journal Article
LanguageEnglish
Published United States 01.02.1990
Subjects
Chemical Phenomena
Chemistry
Electrophoresis, Agar Gel
Electrophoresis, Polyacrylamide Gel
Elliptocytosis, Hereditary - blood
Elliptocytosis, Hereditary - genetics
Erythrocytes - physiology
Heterozygote
Hot Temperature
Humans
Infant
Male
Pedigree
Spectrin - analysis
Thalassemia - blood
Thalassemia - genetics
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Summary:The clinical and hematological parameters of a patient described here, who inherited the genes of both hereditary elliptocytosis (HE) and beta-thalassemia, seem to reflect a mutual enhancement of the two diseases. The coexistence of the two pathologies is probably also responsible for the observed changes in spectrin: the appearance of an extra spectrin band between tetramers and dimers on denaturing gel electrophoresis and the metabolic-dependent reduction in spectrin amount. It is assumed that the instability of the skeletal network that results from the HE pathology caused increased exposure of the spectrin molecule to oxidative damage that usually occurs in thalassemic red cells. The products of such oxidation may have led to abnormal spectrin associations which finally resulted in the above changes.
ISSN:0361-8609
1096-8652
DOI:10.1002/ajh.2830330209