Globin structural mutant α125Leu→Pro is a novel cause of α-thalassaemia

A novel β-globin structural mutant, Hb B

A novel β-globin structural mutant, Hb Brescia (β114 Leu-Pro), causing a severe β-thalassemia intermedia phenotype

✍ S. Murru; D. Poddie; G. V. Sciarratta; S. Agosti; M. Baffico; C. Melevendi; M. P 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 393 KB

This study describes a patient with a thalassemia intermedia-like phenotype in whom P-globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T-C substitution at codon 114 of the P-globin gene arising as a de novo mutation. The abnormal variant was designated Hb Brescia after the p