Article
The First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.
Hemoglobin - 1 Nov 2024
Ning Sisi, Qin Yunrong, Xie Yuling, Liang Yunning, Liang Yi, Wei Guanghong, Zhang Yuping, Pan Jinjie, Lu Yinghong, Liang Shiyan, Xu Ruofan, Mao Aiping, Liu Weiwu
Abstract excerpt
In southern China, α-thalassemia is the most prevalent hereditary monogenic disorder, and deletion variants are the predominant form. Conventional thalassemia diagnosis techniques are numerous, however they are all limited in their ability to detect rare deletions. Here, we discuss a family who sought genetic counseling during their fourth pregnancy after experiencing Hb Bart's hydrops fetalis in two of their...
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