[Genetic diagnosis of alpha and beta thalassemia dual heterozygote].
OBJECTIVE
To perform genetic diagnosis of alpha and beta thalassemia dual heterozygotes.


METHODS
PCR and beta-thalassemia allele specific oligonucleotide probe/reverse dot blot(ASO/RDB) techniques were used.


RESULTS
Six cases of suspected alpha-thalassemia-1 and beta-thalassemia dual heterozygotes were found in genetic counseling and prenatal diagnosis. On genetic diagnosis, they were all Southeast Asia(SEA) type of alpha-thalassemia-1 and beta-thalassemia (--SEA/alpha alpha, beta T/beta A) dual heterozygotes. Out of them, 3 cases were alpha-thalassemia-1 and beta 41-42 (-TCTT), 2 were alpha-thalassemia-1 and beta-28(A-->T) and 1 was alpha-thalassemia-1 and beta IVS-II-654(C-->T) double heterozygotes.


CONCLUSIONS
The detection of thalassemia dual heterozygotes facilitates the prenatal diagnosis with more precision.
Zeng
R
R
Medical Genetics Department, Sun Yatsen University of Medical Sciences, Guangzhou 510089.
Yu
S
S
Hu
B
B
D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005914:Globins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D005914:Globins