Abstract
The rare point mutation Cap +1570 (T>C) (HBB: c*96T>C) has been reported in families of Czech, Greek, Turkish and Italian origin. The mutation contributes to a reduction of the β-globin chain synthesis, and in heterozygous carriers, it causes a silent phenotype, while in compound heterozygosity with severe β-thalassemia (β-thal) mutations, it leads to a non transfusion dependent β-thal intermedia (β-TI) state. We report a case of compound heterozygosity for codon 39 (C>T) (HBB: c.118C>T) and Cap +1570, in addition to the presence of αααanti–3.7/αα.
Acknowledgments
The authors are grateful to The National Thalassaemia Centre, Laikon General Hospital, Athens, Greece, for the molecular findings.
Disclosure statement
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.