Restriction enzyme analysis of the beta-globin gene in DNA from beta 0-thalassaemic subjects from Ferrara.
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DNA↗
Biomedical subjects
F Conconi
Publications and source records attributed to F Conconi.
Molecular basis of thalassemias.
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Biological Transport↗
Reduced levels of variant alpha-globins in beta-thalassaemia.
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Genetic Variation↗
Decrease of alpha-Hasharon globin in beta-thalassaemia.
In time course experiments performed in subjects carrying haemoglobin Hasharon and beta-thalassaemia the synthesis of alphaA-, alphaHasharon-, beta- and gamma-globin has been determined. The alpha-globin molecules synthesized in excess were found to be removed from the red cell cytoplasm (phenomenon characteristic of beta-thalassaemia, described by Bargellesi et al, 1968a); in addition the alphaHasharon-globin molecules were removed at a faster rate than normal alpha-globin. The preferential removal of the mutant alpha-globin explains the reduced level of haemoglobin Hasharon found in subjects carrying the gene for beta-thalassaemia (Alberti et al, 1975). Reductions below normal levels of other haemoglobin variants occurring in the presence of the counterpart-globin thalassaemia are probably determined through a similar mechanism.
Genes↗
Direct demonstration of beta-globin mRNA in homozygous Ferrara betaO-thalassaemia patients.
In cases of betaO-thalassaemia from Ferrara, Italy, the beta-globin gene in transcribed into mRNA but no protein is synthesised. For these cases there is no hybridisation data suggesting a globin gene structural mutation. This again demonstrates the diverse molecular events which may cause this prevalent hereditary disease.
Blood Transfusion↗
Evidence for localisation of genes for human alpha-globin on the long arm of chromosome 4.
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Alleles↗
Appearance of beta globin synthesis in erythroid cells of Ferrara beta -o-thalassaemic patients following blood transfusion.
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Blood Transfusion↗