Hemoglobin Hasharon [alpha 247 (CD5)Asp leads to His beta 2] linked to alpha-Thalassemia in northern Italian carriers. Hematological and biosynthetic studies. 1980

F Mavilio, and M Marinucci, and A Massa, and P P Fontanarosa, and L Tentori, and G Cappellozza

This report is concerned with the evaluation of hematological parameters and of both relative (%) and absolute (mean pg/cell) quantities of the abnormal Hemoglobin (Hb) Hasharon in 53 heterozygous carriers and 7 double heterozygotes for Hb Hasharon and beta-thalassemia from 43 apparently unrelated families living in the province of Rovigo (northern Italy). Biosynthetic studies are also reported. The data strongly suggest the presence of an alpha-thalassemia-2 determinant closely linked to the alpha Hasharon-chain locus. Selective advantage of heterozygotes carrying such alpha-haplotype would explain the relatively high frequency of Hb Hasharon (0.23%) in northeastern Italy, a past-endemic malaria region. The interaction between Hb Hasharon and beta-thalassemia results in preferential decrease of the abnormal Hb level.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D001797 Blood Protein Electrophoresis Electrophoresis applied to BLOOD PROTEINS. Hemoglobin Electrophoresis,Electrophoresis, Blood Protein,Electrophoresis, Hemoglobin,Protein Electrophoresis, Blood
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
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
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

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