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Thalassemia intermedia: compound heterozygous β∘/β+-thalassemia and co-inherited heterozygous α+-thalassemia

✍ Scribed by A. E. Kulozik; E. Kohne; E. Kleihauer

Book ID
105294324
Publisher
Springer
Year
1993
Tongue
English
Weight
597 KB
Volume
66
Category
Article
ISSN
0939-5555

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✍ Gasperini, D.; Perseu, L.; Melis, M.A.; Maccioni, L.; Sollaino, M.C.; Paglietti, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB

In this study we investigated the molecular bases of the beta-thalassemia intermedia phenotype in six patients belonging to two unrelated families of Sardinian descent. Sequence analysis of the beta globin gene from these patients detected, as the sole abnormality, the heterozygosity for the codon 3