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 language | Italian |
|---|---|
| Pages (from-to) | 136-143 |
| Number of pages | 8 |
| Journal | Blood Transfusion |
| Volume | 3 |
| Issue number | 2 |
| Publication status | Published - 2005 |
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ASJC Scopus subject areas
- Hematology
- Immunology and Allergy
Cite this
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 journal › Article
}
TY - JOUR
T1 - Basi molecolari della beta-talassemia in Italia
AU - Refaldi, Chiara
AU - Cerino, Mario
AU - Bignamini, Daniela
AU - Volpato, Elisabetta
AU - Cassinerio, Elena
AU - Cappellini, Maria Domenica
PY - 2005
Y1 - 2005
N2 - 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).
AB - 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).
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M3 - Articolo
VL - 3
SP - 136
EP - 143
JO - Blood Transfusion
JF - Blood Transfusion
SN - 1723-2007
IS - 2
ER -