Abstract
A pregnant woman living in Fujian Province, southeastern China, presented due to a risk of having a baby with β-thalassemia major, during her second pregnancy, since she and her husband were suspected as β-thalassemia carriers and their affected daughter was a transfusion-dependent patient. Using the common α-thalassemia and β-thalassemia genotypes test, the pregnant woman was diagnosed as a β-thalassemia carrier with βIVS−2 − 654 (C→T)/βN genotype and her daughter had a homozygosity for IVS − 2 − 654 (C→T) mutation, however, no abnormalities were detected in her husband. SMRT identified a Filipino β0-deletion in her husband, and MLPA also revealed an unknown deletion in the HBB gene. Electrophoresis showed approximately 350 bp of the PCR product, and the β-Filipino genotype presented novel fracture fragments ranging from 5,112,884 to 5,231,358 bp, and lacked a 118,475 bp fragment relative to the wild-type sequence. The daughter was therefore diagnosed with the βIVS−2 − 654 (C→T)/βFilipino genotype. Prenatal diagnosis with umbilical cord blood at 27th week of gestation showed heteroztgosity for IVS − 2 − 654 (C→T) mutation in the fetus and continued pregnancy was recommended. In conclusion, we identified the Filipino β0-deletion in a Chinese family, from Fujian area, for the first time, during prenatal screening.
Acknowledgments
The authors would like to thank Ms Yu Zheng from Yaneng BioSciences (Shenzhen) Co.Ltd for the rare genetic assays of β-thalassemia.
Authors’ contributions
Na Lin, Liangpu Xu and Hailong Huang designed the study, Meihuan Chen and Aixiang Lv performed experimental studies, Meihuan Chen drafted the manuscript. Siwen Zhang, Junhao Zheng and Jianlong Zhuang collected the literature, Min Zhang, Lingji Chen and Qianqian He collected the data and prepared the manuscript. All authors approved the final manuscript.
Ethical approval
This study was proved by the Ethics Review Committee of Fujian Maternity and Child Health Hospital (2017–031).
Informed consent
Signed informed consent was obtained from all participants or their parents before starting study.
Disclosure statement
The authors confirm that they have no competing interests.
Availability of data and materials
The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.