Detection of a rare beta-globin nonsense mutation [codon 59 (AAG--TAG)] in an Italian family
In: Hemoglobin, Jg. 30 (2006-07-15), Heft 3
Online
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Zugriff:
In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a beta0-thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two beta-thal carriers of the beta-globin nonsense mutation [codon 59 (AAG-->TAG)] (the proband and his father) showed the hematological picture of a beta0-thal trait: the only hematological difference between the two beta-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).
| Titel: |
Detection of a rare beta-globin nonsense mutation [codon 59 (AAG--TAG)] in an Italian family
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| Autor/in / Beteiligte Person: | Amato, Antonio ; Bianco, I ; Foglietta, Enrica ; Mastropietro, Fabrizio ; Paola Di Biagio ; Maria Pia Cappabianca ; Ponzini, D ; Rinaldi, Silvana ; Grisanti, Paola ; Dallapiccola, Bruno ; Colosimo, Alessia ; Guida, Valentina |
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| Zeitschrift: | Hemoglobin, Jg. 30 (2006-07-15), Heft 3 |
| Veröffentlichung: | 2006 |
| Medientyp: | unknown |
| ISSN: | 0363-0269 (print) |
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