Prenatal Diagnosis of Homozygous alpha-Thalassemia 1 by Fetal Hemoglobin Typing with High Performance Liquid Chromatography
Keywords:
PND, Homozygous alpha-thalasemia 1, Fetal Hb typing, HPLCAbstract
Abstract: The current prenatal diagnostic method for homozygous alpha-thalassemia 1 (Hb Bart's hydrops fetalis) is to analyze the DNA obtained from chorionic villi sampling. Although it is a high precision method and can be used for prenatal diagnosis in the 8th - 12th week gestation period, the procedure is rather complicated and enors due to contamination of the mother's tissue may occur.
The analysis of Hb type for example Hb Fand Hb A which are not found in fetus with Hb Bart's hydrops fetalis is an alternative to prenatal diagnostic method. Method: The blood of 18-22 weeks fetuses were obtained from cordocentesis in 32 antenatal women suspected of having homozygous alpha-thalassemia 1. They were analyzed by POR - based method of alpha-thalassemia 1 (SEA type) and the Hb proportion were determined by automated HPLC Results: Bight out of 32 cases were reported to be homozygous alpha-thalassemia 1, 14 were alpha-thalassemia 1 trait, 3 were Hb E/alpha-thalasssemia 1 and no alpha-thalassemia 1 gene was found in 7 cases. The fetal Hb typing for homozygous alpha-thalassemia 1 chromatogram showed unbound Hb Hb (Hb Bart's and Hb Portland) peak without Hb F. Hb A and Hb A2 . The alpha-thalassemia 1 trait chromatogram showed unbound Hb, pre Hb F. Hb F and Hb A peaks The normal fetus chromotogram showed Hb F and Hb A peaks without Hb A2. The Hb A proportion is between 4-7% and unchanged during the 18-22 week gestation period. The analvsis of Hb types by HPLC is convenient and speedy, and the results correspond with the PCR alpha.-thalassemia 1 method. Discussion and Summary: Fetal Hb typing by automated HPLC is a prenatal
diagnostic method for homozygous alpha-thalassemia 1. As it is precise and simple, it is thereforefore suitable for the diagnosis of antenatal women suspected of having homozygous alpha-thalassemia 1 and should be used in thalassemia prevention and care projects of Thailand.
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