Rapid prenatal diagnosis of Hb Bart's hydrops fetalis in southeast Asia area by polymerase chain reaction.
We used the polymerase chain reaction (PCR) to amplify the breakpoint area of alpha-thalassemia-1 of Southeast Asia type and several parts of the alpha-globin gene cluster to make a differential diagnosis between alpha-thalassemia-1 and Hb Bart's hydrops fetalis. The procedure involved three primers to detect the homozygote of alpha-thalassemia-1, then amplifies the other alpha-globin gene cluster with three other pairs of primers to double check the results. The PCR products were checked again by allele specific probes. Twenty-two cases were diagnosed prenatally, two were normal, 17 were alpha-thalassemia-1, and three Hb Bart's hydrops fetalis. All cases were confirmed either by Southern blot hybridization or follow-up by sonography or after delivery. No false positive or false negative results were obtained by our strigent procedure. We conclude it to be a rapid, accurate and economic method.
Chang
J G
JG
Department of Molecular Medicine and Clinical Pathology, Taipei Municipal Jen-Ai Hospital, Taiwan, ROC.
Chen
C P
CP
Ho
H J
HJ
Lin
C P
CP
Lee
L S
LS
Chen
P H
PH
D001210:Asia, Southeastern; D001483:Base Sequence; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D015160:Hydrops Fetalis / Q000097:blood / Q000175:diagnosis*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D017085:alpha-Thalassemia / Q000175:diagnosis
D006455:Hemoglobins, Abnormal