Molecular prenatal diagnosis of alpha and beta thalassemia in pregnant Hakka women in southern China

Autor: Mei Zeng, Wei Guo, Heming Wu, Hualan Lin, Zhiyuan Zheng, Pingsen Zhao, Zhixiong Zhong, Luxian Su, Liubing Lan, Huaxian Wang
Rok vydání: 2017
Předmět:
0301 basic medicine
Microbiology (medical)
China
congenital
hereditary
and neonatal diseases and abnormalities

medicine.medical_specialty
Amniotic fluid
Thalassemia
DNA Mutational Analysis
Clinical Biochemistry
Prenatal diagnosis
Gene mutation
Polymerase Chain Reaction
law.invention
03 medical and health sciences
Fetus
0302 clinical medicine
alpha-Thalassemia
Pregnancy
law
Prenatal Diagnosis
hemic and lymphatic diseases
medicine
Humans
Immunology and Allergy
Research Articles
Polymerase chain reaction
Retrospective Studies
Gynecology
Obstetrics
business.industry
Pregnancy Complications
Hematologic

beta-Thalassemia
Biochemistry (medical)
Public Health
Environmental and Occupational Health

Beta thalassemia
Hematology
medicine.disease
Medical Laboratory Technology
030104 developmental biology
Molecular Diagnostic Techniques
030220 oncology & carcinogenesis
Cord blood
Female
business
Zdroj: Journal of Clinical Laboratory Analysis. 32:e22306
ISSN: 0887-8013
DOI: 10.1002/jcla.22306
Popis: Background To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. Methods A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood. DNA-based diagnosis was performed on the tissues of fetuses whose parents had tested positive for α- and β-globin gene mutations were found using polymerase chain reaction (PCR) and flow-through hybridization technique. Follow-up visits were performed 6 months after the fetuses were born. Prenatal diagnosis was performed on 279 fetuses in at-risk pregnancies. Results Here, 211 α-thalassemia fetuses were confirmed, including 41 (19.43%) that tested positive for Bart's hydrops syndrome and 15 (7.11%) for Hb H disease. There were 103 (48.81%) heterozygotes. β-thalassemia was confirmed in 68 fetuses, including 23 (33.82%) with severe thalassemia and 27 (39.71%) heterozygotes. Another 12 cases were confirmed with α+β-thalassemia, including three cases of severe β-thalassemia. DNA-based testing prenatal diagnosis of thalassemia was found to be highly reliable. Conclusions Our findings provide key information for clinical genetic counseling of prenatal diagnosis for major thalassemia in pregnant Hakka women in southern China.
Databáze: OpenAIRE