Prenatal diagnosis of Thailand deletion of alpha-thalassemia 1.
- Author:
Ping CHEN
1
;
Shu-quan LI
;
Min-qing LI
;
Li-hong PANG
;
Wei-xiong LIN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Female; Fetal Diseases; blood; diagnosis; genetics; Genotype; Hemoglobins; analysis; Humans; Male; Pregnancy; Prenatal Diagnosis; Sequence Analysis, DNA; Sequence Deletion; genetics; alpha-Thalassemia; blood; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2007;24(3):247-250
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo conduct prenatal diagnosis on the couples carrying Thailand deletion (--THAI) alpha-thalassemia 1 and at high risk of having fetus with alpha-thalassemia.
METHODSGenotypes of couples and fetuses were analyzed by PCR and DNA sequencing.
RESULTSFour 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.
CONCLUSIONThe study on prenatal diagnosis of Thailand deletion alpha-thalassemia 1 is of importance to the genetic counseling and prenatal diagnosis of alpha-thalassemia.