Delta beta (F)-thalassaemia in Sardinia. 1982

A Cao, and M A Melis, and R Galanello, and A Angius, and M Furbetta, and P Giordano, and L F Bernini

A population survey carried out in southern sardinia on more than 5000 people has shown that delta beta (F)-thalassaemia, with a gene frequency of 0-00088, is a rare trait in this population. We examined the members of three families segregating for both delta beta- and beta(0)-thalassemia and a number of delta beta carriers identified during the screening. The doubly heterozygous children suffer from a mild form of Cooley's disease with non-alpha/alpha biosynthetic ratios within the range of values observed in beta (0)-thalassaemia homozygotes. Three of them have been transfusion dependent for some time. The delta beta carriers, although in many respects showing the usual picture of delta beta-thalassaemia, such as abnormal red cell indices, normal Hb A2, Hb F heterogeneously distributed in the erythrocytes, and low beta/alpha synthetic ratios, have unusually high levels of Hb F (range 10 to 20%) and particularly low glycine content (range 0.02 to 0.14 residues) in the isolated gamma CB3 peptide. These results have led us to the conclusion that the delta beta-thalassaemia found in Sardinia is different from the similar kind of delta beta defect found in Negroes and in other Mediterranean populations, including continental Italians.

UI MeSH Term Description Entries
D007558 Italy A country in southern Europe, a peninsula extending into the central Mediterranean Sea, northeast of Tunisia. The capital is Rome. Sardinia
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D005319 Fetal Hemoglobin The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA. Hemoglobin F,Hemoglobin, Fetal
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005796 Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic

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