A novel mediterranean “δβ-thalassemia” determinant containing the δ+27 and β°39 point mutations in cis

✍ Scribed by Lina Oggiano; Luciana Guiso; Laura Frogheri; Georgios Loudianos; Paola Pistidda; Elena Rimini; Mario Pirastu; Antonio Cao; Dr. Maurizio Longinotti

• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 265 KB
• Volume: 45
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/ajh.2830450113

✦ Synopsis

The term Gp-thalassemla with normal HbF has been recently proposed to define heterogenous 6 and p globin gene molecular defects involving the same chromosome In cis. Here, we describe a Sardlnlan family In which three members showing mlcrocytosis, border-line HbA, levels and normal HbF proved to be heterozygotes for 6'27 and p"39 point mutations in cis by allele speclflc oligonucleotyde hybridization as well as by ECO 0 109 I endonuclease digestion and electrophoresis. As some of these p-thalassemla carriers shows normal HbA, levels, knowledge of the molecular basis of this novel Gp-thalassemla silent phenotype would be useful in thalassemla screening and genetic counselling.