Prenatal diagnosis of Thailand deletion of alpha-thalassemia 1 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To conduct prenatal diagnosis on the couples carrying Thailand deletion (--THAI) alpha-thalassemia 1 and at high risk of having fetus with alpha-thalassemia.</p><p><b>METHODS</b>Genotypes of couples and fetuses were analyzed by PCR and DNA sequencing.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The study on prenatal diagnosis of Thailand deletion alpha-thalassemia 1 is of importance to the genetic counseling and prenatal diagnosis of alpha-thalassemia.</p>