Compound Heterozygosity for Silent Cap +1570 (T>C) (HBB: c*96T>C), Codon 39 (C>T) (HBB: c.118C>T) and the Presence of ααα^anti–3.7/αα in Greece. A Case Presentation

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 ααα^anti–3.7/αα.

Keywords:

• β-Thalassemia intermedia (β-TI)
• genetic counseling
• silent mutation

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.