The interaction of alpha thalassaemia with heterozygous beta thalassaemia. 1982

E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous

The alpha globin genotypes of 55 beta thalassaemia heterozygotes have been determined by restriction endonuclease analysis to identify those with interacting alpha thalassaemia genes. A comparison of the haematological and haemoglobin synthesis findings of individuals with normal alpha genotypes (alpha alpha/alpha alpha) with those with one (-alpha/alpha alpha) or two (-alpha/-alpha) alpha genes deleted shows that the latter two groups have more balanced globin chain synthesis ratios, higher haemoglobin levels, and larger, better haemoglobinized red cells. This suggests that the degree of globin chain imbalance is a significant factor in determining the red cell characteristics in heterozygous beta thalassaemia. Screening programmes for thalassaemia, based on the detection of low MCVs, could miss cases of the interaction of alpha and beta thalassaemia.

UI MeSH Term Description Entries
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D004262 DNA Restriction Enzymes Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1. Restriction Endonucleases,DNA Restriction Enzyme,Restriction Endonuclease,Endonuclease, Restriction,Endonucleases, Restriction,Enzymes, DNA Restriction,Restriction Enzyme, DNA,Restriction Enzymes, DNA
D004909 Erythrocyte Indices ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC). Erythrocyte Hemoglobin, Mean Cell,Erythrocyte Size Determination,Erythrocyte Volume, Mean Cell,Hemoglobin, Erythrocyte, Mean Cell,Mean Corpuscular Volume,Red Cell Indices,Erythrocyte Diameter,Erythrocyte Index,Erythrocyte Indexes,Erythrocyte Thickness,Mean Cell Hemoglobin Concentration,Mean Cell Volume,Mean Corpuscular Hemoglobin,Mean Corpuscular Hemoglobulin Concentration,Red Cell Distribution Width,Red Cell Index,Red Cell Indexes,Cell Volumes, Mean,Corpuscular Volumes, Mean,Determination, Erythrocyte Size,Determinations, Erythrocyte Size,Diameter, Erythrocyte,Diameters, Erythrocyte,Erythrocyte Diameters,Erythrocyte Size Determinations,Hemoglobin, Mean Corpuscular,Hemoglobins, Mean Corpuscular,Index, Erythrocyte,Index, Red Cell,Indexes, Erythrocyte,Indexes, Red Cell,Indices, Erythrocyte,Indices, Red Cell,Mean Cell Volumes,Mean Corpuscular Hemoglobins,Mean Corpuscular Volumes,Size Determination, Erythrocyte,Size Determinations, Erythrocyte,Thickness, Erythrocyte,Volume, Mean Cell,Volume, Mean Corpuscular,Volumes, Mean Cell,Volumes, Mean Corpuscular
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006454 Hemoglobins The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Eryhem,Ferrous Hemoglobin,Hemoglobin,Hemoglobin, Ferrous
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013789 Thalassemia A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. Thalassemias

Related Publications

E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
May 1987, British journal of haematology,
E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
May 1987, British journal of haematology,
E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
May 1987, British journal of haematology,
E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
December 1983, British journal of haematology,
E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
December 1988, British journal of haematology,
E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
January 1979, Acta haematologica,
E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
October 1972, The Medical journal of Australia,
E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
September 1973, The Medical journal of Australia,
E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
January 1981, British journal of haematology,
E Kanavakis, and J S Wainscoat, and W G Wood, and D J Weatherall, and A Cao, and M Furbetta, and R Galanello, and D Georgiou, and T Sophocleous
December 1978, Journal of medical genetics,
Copied contents to your clipboard!