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[Genetic diagnosis of alpha and beta thalassemia dual heterozygote]
1Medical Genetics Department, Sun Yatsen University of Medical Sciences, Guangzhou 510089.
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.
Conclusion:
The detection of thalassemia dual heterozygotes facilitates the prenatal diagnosis with more precision.