• Wei Zhang, Xiaokang Li, Xiaoxia Wu, Xin Huang, Xiao Zhang, Yi Lu, Jianmin Niu, and Jian Zhang.
• Shenzhen Key Laboratory of Cardiovascular Health and Precision Medicine, Southern University of Science and Technology, Shenzhen, Guangdong, China.
• Medicine (Baltimore). 2022 Nov 25; 101 (47): e31645e31645.

RationaleWhile thalassemia is a monogenic disease that is relatively common worldwide, there is no recognized radical cure for thalassemia in current medical practice. Prenatal diagnosis is the most important contribution to thalassemia prevention, but due to its technical limitations, rare thalassemia mutations cannot be detected; and the birth of thalassemic babies cannot be completely circumvented. Whole-exome sequencing can, however, compensate for this shortcoming.Patient ConcernsWe report the results of whole exon sequencing of amniotic cells in 5 pregnant women with thalassemia.DiagnosisPrenatal diagnosis revealed that 4 of them were α thalassemia carriers and 1 of them was β thalassemia carrier.Interventions And OutcomesWe collected amniotic fluid of 5 pregnant women (age range: 25-27 years, Mean ± SD: 28 ± 1.8) with thalassemia. The gestational ages ranged between 16 and 19 weeks. The cells were separated from the amniotic fluid and passaged until a sufficient number of cells were obtained for exome sequencing. We therefore employed whole-exome sequencing of amniotic fluid cells from thalassemic carriers to validate prenatal diagnostic results and to identify novel mutation sites. We found that 4 of 5 samples are SEA which is consistent with the clinical prenatal diagnosis. However, 2 of 5 samples were point mutations in the HBB gene, and were thus different from the clinical prenatal diagnosis.ConclusionThe identifications from this study showed that prenatal diagnosis has limitations. Whole-exome sequencing can compensate for this shortcoming. And this study would add new insights into understanding of molecular mechanisms in thalassemia.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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