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Sardinian haplotype II β0-thalassemia is linked to the variant AγT-globin gene with a 4-bp promoter deletion and diminished AγT expression

Manca, Laura and Cocco, Elena and Gallisai, Domenico Pietro Paolo and Masala, Bruno Lucio and Gilman, John G. (1990) Sardinian haplotype II β0-thalassemia is linked to the variant AγT-globin gene with a 4-bp promoter deletion and diminished AγT expression. Annals of the New York Academy of Sciences, Vol. 612 , p. 485-487. eISSN 1749-6632. Article.

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DOI: 10.1111/j.1749-6632.1990.tb24338.x


Several factors influence the severity of homozygous β-thalassemia: β-thalassemia intermedia (non-transfusion dependent) patients often have at least one β+-thalassemia allele with only moderate impairment of β-globin production. β-thalassemia is also ameliorated by coinheritance of α-thalassemia or by γ-globin promoter mutations, such as T at position -158, which increase fetal hemoglobin production.
In Sardinia, the codon 39 nonsense mutation (β39) is the primary cause of Β0-thalassemia. Two-thirds of northern Sardinian patients have this mutation on haplotype II, while one-fourth have it on haplotype I. Haplotype II, with ++ at the Hind III sites in the Gγ and Aγ genes, is strongly associated with the variant AγT globin, while haplotype I is associated with the normal AγI.
We have previously demonstrated that a β0-thalassemia haplotype found in a black family, with ++ at the Hind III sites, had a 4-base-pair (bp) deletion at positions -225 to -222 of the Aγ gene, in association with reduced Aγ (elevated Sγ ) levels. We have now extended this study to northern Sardinia, providing statistical data for the association of the 4-bp deletion with decreased AγT expression.

Item Type:Article
ID Code:3105
Uncontrolled Keywords:β0-thalassemia, AγT-globin gene, fetal hemoglobin production, Sardinia
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Area 06 - Scienze mediche > MED/38 Pediatria generale e specialistica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
001 Università di Sassari > 01 Dipartimenti > Neuroscienze, scienze materno infantili
Publisher:Blackwell / Wiley
Copyright Holders:© 2009 The New York Academy of Sciences
Additional Information:Paper presented at the 6th Cooley's Anemia Symposium, New York (USA), 13-15 March 1990.
Deposited On:09 Oct 2009 12:45

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