Basi molecolari della beta-talassemia in Italia

Translated title of the contribution: Molecular basis of β-thalassaemias in Italy

Chiara Refaldi, Mario Cerino, Daniela Bignamini, Elisabetta Volpato, Elena Cassinerio, Maria Domenica Cappellini

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

The β-thalassaemias are a heterogeneous group of inherited disorders of haemoglobin synthesis, all characterized by the absence (β°) or reduced output (b+ or b++) of the β chains of haemoglobin. Over 200 different mutations have been identified in the β-globin gene of patients with β-thalassaemia, whose relative frequency is different in various countries. With the exception of a few deletions, the bulk of them consist of point mutations or the loss of one or two bases, wich interferes with gene function either at the transcriptional, translational or post-translational levels. The aim of this study was to identify the frequency of β-thalassaemia mutations in Italy by molecular analysis of 1.207 β-thalassaemic alleles. Twenty-one different mutations have been identified. Three of them accounted for over 70% of the β-thalassaemia alleles identified in this population sample (codon 39, IVS1-6, IVS1-110). Thirty-six different genotypes among thalassaemia intermedia and 18 among thalassaemia major have been recorded, being some genotypes restricted to thalassaemia intermedia including homozygosity for IVS1-6 T → C and compound heterozygosity for a promoter mutation (-87 C→G ) or -101 C→T).

Original languageItalian
Pages (from-to)136-143
Number of pages8
JournalBlood Transfusion
Volume3
Issue number2
Publication statusPublished - 2005

Fingerprint

Thalassemia
beta-Thalassemia
Italy
Mutation
Hemoglobins
Alleles
Genotype
Globins
Mutation Rate
Point Mutation
Codon
Genes
Population

ASJC Scopus subject areas

  • Hematology
  • Immunology and Allergy

Cite this

Refaldi, C., Cerino, M., Bignamini, D., Volpato, E., Cassinerio, E., & Cappellini, M. D. (2005). Basi molecolari della beta-talassemia in Italia. Blood Transfusion, 3(2), 136-143.

Basi molecolari della beta-talassemia in Italia. / Refaldi, Chiara; Cerino, Mario; Bignamini, Daniela; Volpato, Elisabetta; Cassinerio, Elena; Cappellini, Maria Domenica.

In: Blood Transfusion, Vol. 3, No. 2, 2005, p. 136-143.

Research output: Contribution to journalArticle

Refaldi, C, Cerino, M, Bignamini, D, Volpato, E, Cassinerio, E & Cappellini, MD 2005, 'Basi molecolari della beta-talassemia in Italia', Blood Transfusion, vol. 3, no. 2, pp. 136-143.
Refaldi C, Cerino M, Bignamini D, Volpato E, Cassinerio E, Cappellini MD. Basi molecolari della beta-talassemia in Italia. Blood Transfusion. 2005;3(2):136-143.
Refaldi, Chiara ; Cerino, Mario ; Bignamini, Daniela ; Volpato, Elisabetta ; Cassinerio, Elena ; Cappellini, Maria Domenica. / Basi molecolari della beta-talassemia in Italia. In: Blood Transfusion. 2005 ; Vol. 3, No. 2. pp. 136-143.
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