Meihuan Chen, Aixiang Lv, Siwen Zhang, Junhao Zheng, Min Zhang, Lingji Chen, Qianqian He, Jianlong Zhuang, Na Lin, Liangpu Xu, Hailong Huang
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...
January 9, 2024: Hemoglobin