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[Prenatal diagnosis of Thailand deletion of alpha-thalassemia 1].

Authors :
Chen P
Li SQ
Li MQ
Pang LH
Lin WX
Source :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2007 Jun; Vol. 24 (3), pp. 247-50.
Publication Year :
2007

Abstract

Objective: To conduct prenatal diagnosis on the couples carrying Thailand deletion (--THAI) alpha-thalassemia 1 and at high risk of having fetus with alpha-thalassemia.<br />Methods: Genotypes of couples and fetuses were analyzed by PCR and DNA sequencing.<br />Results: Four pregnant women were patients with Hb H diseases of --THAI compounding with alpha-thalassemia 2, while their husbands were heterozygote of the Southeast Asian type alpha-thalassemia 1 (--SEA). Another 5 families, either husbands or wives were heterozygote of --THAI or --SEA. The genotypes of their fetuses were as follows: 2 cases with Hb Bart's hydrops fetalis syndrome, 1 Hb H disease, 4 alpha-thalassemia heterozygote and 2 normal. The DNA sequencing approved the PCR results.<br />Conclusion: The study on prenatal diagnosis of Thailand deletion alpha-thalassemia 1 is of importance to the genetic counseling and prenatal diagnosis of alpha-thalassemia.

Details

Language :
Chinese
ISSN :
1003-9406
Volume :
24
Issue :
3
Database :
MEDLINE
Journal :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Publication Type :
Academic Journal
Accession number :
17557230