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).
Translated title of the contribution | Molecular basis of β-thalassaemias in Italy |
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Original language | Italian |
Pages (from-to) | 136-143 |
Number of pages | 8 |
Journal | Blood Transfusion |
Volume | 3 |
Issue number | 2 |
Publication status | Published - 2005 |
ASJC Scopus subject areas
- Hematology
- Immunology and Allergy