| Autor: |
Galanello, R., Dessi, E., Melis, M.A., Addis, M., Sanna, M.A., Rosatelli, C., Argiolu, F., Giagu, N., Turco, M.P., Cacace, E., Pirastu, M., Cao, A. |
| Zdroj: |
Blood; August 1989, Vol. 74 Issue: 2 p823-827, 5p |
| Abstrakt: |
In this study we have carried out α- and β-globin gene analysis and defined the β-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the β-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We found that homozygotes for the frameshift mutation at codon 6 or compound heterozγgotes for this mutation and for the codon 39 nonsense mutation develop thalassemia intermedia more frequently than thalassemia major. The frameshift mutation at codon 6 was associated with haplotype IX that contains the C-T change at position — 158 5‘ to the Gγglobin gene implicated in high γ chain production and thus the mild phenotype. In patients’ homozygotes for codon 39 nonsense mutation, those with thalassemia intermedia more frequently had the two-gene deletion form of α-thalassemia, or functional loss of the a2gene as compared with those with thalassemia major. In a few siblings with thalassemia major and intermedia, the thalassemia intermedia syndrome correlated with the presence of the -α/ -αgenotype. No cause for the mild phenotype was detected in the majority of patients who had not inherited either haplotype IX or α-thalassemia. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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