Article
Diagnosis and Prenatal Diagnosis in a Chinese Family Carrying the Rare α-Thalassemia Gene HBA2: c.1A>G Mutation.
Hemoglobin - 1 Jan 2020
Chen Xingyuan, Luo Shiqiang, Huang Jun, Yuan Dejian, Yan Tizhen, Cai Ren, Tang Ning
Abstract excerpt
The aim of this study was to identify the rare thalassemia genotype in a family and perform prenatal diagnosis (PND) on the proband's unborn child. Peripheral blood was collected from the family members for hematology analysis and capillary electrophoresis (CE) analysis. Peripheral blood and cord blood were analyzed by gap-polymerase chain reaction (gap-PCR), reverse dot-blot and Sanger sequencing for genotypes...
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