Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families.

Aims: β-Thalassaemia is an inherited blood disorder caused by mutations in the β-globin gene cluster. Molecular characterisation of β-thalassaemia is essential for its diagnosis and management. More and more rare and novel mutations have been reported.

Molecular analysis of a large novel deletion causing α-thalassemia.

Background: α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia's diagnosis and management.

Methods: A family with α-thalassaemia from Fujian, China was recruited for this study.