TSANG-MING KOLI-HUI TSENGFON-JOU HSIEHLee T.-Y.2022-03-102022-03-1019930197-3851https://www.scopus.com/inward/record.uri?eid=2-s2.0-0027533407&doi=10.1002%2fpd.1970130210&partnerID=40&md5=c06aeedf6fdb7ddc29af798901c25896https://scholars.lib.ntu.edu.tw/handle/123456789/597171A 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. Copyright ? 1993 John Wiley & Sons, Ltd.Constant Spring Hb H disease; Polymerase chain reaction; Prenatal diagnosis; South?east Asian deletion Hb[SDGs]SDG3hemoglobin h; article; case report; female; fetus; gene deletion; hemoglobinopathy; heterozygosity; human; polymerase chain reaction; prenatal diagnosis; Abortion, Therapeutic; Adult; alpha-Thalassemia; Base Sequence; Blotting, Southern; Case Report; Chorionic Villi Sampling; Chromosome Deletion; DNA; Female; Fetal Diseases; Heterozygote; Human; Male; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Pregnancy; Pregnancy Trimester, First; Support, Non-U.S. Gov'tPrenatal diagnosis of Hb H disease due to compound heterozygosity for SouthâEast Asian deletion and Hb constant spring by polymerase chain reactionjournal article10.1002/pd.197013021084648342-s2.0-0027533407