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. Methods Two Chinese families with β-thalassaemia from Fujian Province were recruited in this study. The phenotypes of the probands were confirmed through haematological analysis. Routine molecular analysis of thalassaemia was employed to identify the common mutations of thalassaemia. The rare and novel mutations were detected by direct DNA sequencing. Results In family 1, the proband, a Chinese woman aged 31 years, showed elevated level of haemoglobin A2 (HbA2). No common mutations associated with β-thalassaemia were detected, whereas a rare mutation Term CD+32(HBB: c.32A>C) was identified through DNA sequencing. Subsequent investigation of the β-thalassaemia mutation in her family showed that her mother, her brother as well as her nephew also carried this mutation. In addition, both the proband’s husband and her son carrying the rare -- THAI mutation exhibited decreased levels of MCH, MCH and HbA2. In family 2, the proband, a child aged 1 year, showed elevated level of HbA2, but had no common mutations of β-thalassaemia. The proband was identified carrying the mutation Term CD+32(HBB: c.32A>C), which was inherited from his mother. Conclusions In this study, we first report a rare β-thalassaemia mutation in Fujian Province, Southeast China. Moreover, our study also identified this rare mutation in humans. This finding has helped broaden the spectrum of β-thalassaemia mutations in our region and suggested that this rare mutation may be more prevalent in the Chinese population.