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Carrier screening and prenatal diagnosis for alpha-thalassemia with biphasic polymerase chain reaction. 1994

P L Kuo, and T M Lin, and K F Huang, and N G Yeh, and D B Wu, and R C Wu, and C C Tzeng, and H L Wu, and K E Huang
Department of Obstetrics and Gynecology, National Cheng Kung University Medical Center, Tainan, Taiwan, R.O.C.

Alpha-thalassemia is the most common single gene disorder in Taiwan and Southeast China. The majority of alpha-thalassemic mutations in this area are alpha-thalassemia 1. Homozygous alpha-thalassemia 1 has been recognized as the most important cause of hydrops fetalis. To investigate the incidence of alpha-thalassemia 1 mutations and to characterize its molecular defects, cord blood electrophoresis was performed on 2,000 newborns, of which 99 (5%) cases were found to have hemoglobin (Hb) Bart's levels > 3.0%. A methodology using biphasic polymerase chain reaction (PCR) with nesting primers was developed to characterize the alpha-thalassemia 1 Southeast Asia type (SEA) deletion in the cases with detectable Hb Bart's levels. The SEA deletion was found in 92 (93%) of 99 cases. Prenatal screening was performed on couples with abnormal hematologic indices, and PCR was used to detect couples heterozygous for SEA deletion. Prenatal diagnosis was performed in 21 cases, and four cases were found to have a homozygous SEA deletion. This strategy can be applied to couples who need prenatal genetic counseling for alpha-thalassemia major in this area.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D005260 Female Females
D005312 Fetal Blood Blood of the fetus. Exchange of nutrients and waste between the fetal and maternal blood occurs via the PLACENTA. The cord blood is blood contained in the umbilical vessels (UMBILICAL CORD) at the time of delivery. Cord Blood,Umbilical Cord Blood,Blood, Cord,Blood, Fetal,Blood, Umbilical Cord,Bloods, Cord,Bloods, Fetal,Bloods, Umbilical Cord,Cord Blood, Umbilical,Cord Bloods,Cord Bloods, Umbilical,Fetal Bloods,Umbilical Cord Bloods
D005315 Fetal Diseases Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001210 Asia, Southeastern The geographical area of Asia comprising BORNEO; BRUNEI; CAMBODIA; INDONESIA; LAOS; MALAYSIA; the MEKONG VALLEY; MYANMAR (formerly Burma), the PHILIPPINES; SINGAPORE; THAILAND; and VIETNAM. Southeast Asia,Southeastern Asia

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