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Prenatal diagnosis of Hb H disease due to compound heterozygosity for South-East Asian deletion and Hb constant spring by polymerase chain reaction |
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| Authors: | Dr Tsang-Ming Ko Li-Hui Tseng Fon-Jou Hsieh Tzu-Yao Lee |
| Institution: | 1. Department of Medical Genetics, College of Medicine, National Taiwan University, Taipei, Taiwan, Republic of China;2. Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan, Republic of China
Department of Medical Genetics, College of Medicine, National Taiwan University, Taipei, Taiwan, Republic of China |
| Abstract: | A pregnant woman has two children affected by moderately severe Hb H disease due to compound heterozygosity of South-east Asian deletion and Constant Spring mutation. In her third pregnancy, transabdominal chorionic villus sampling was performed at the tenth gestational week to obtain fetal DNA. The polymerase chain reaction was used for detection of both the South-east Asian deletion and the Constant Spring mutation. Hb H disease was diagnosed in the fetus. After genetic counselling, the couple elected to have the pregnancy terminated. |
| Keywords: | Prenatal diagnosis Polymerase chain reaction South-east Asian deletion Hb Constant Spring Hb H disease |