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 |
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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 |
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