Prenatal Diagnosis of Homozygous α-Thalassemia

A Vietnamese couple were both carriers of α-thalassemia-1. The woman had a first pregnancy terminated in the delivery of a hydropic fetus due to homozygous α-thalassemia. The couple requested prenatal diagnosis for the second pregnancy. The DNA obtained from cultured amniotic fluid cells was studied by hybridization with globin cDNA in solution and on filters (Southern technique). Both analyses demonstrated no α-globin structural genes were present. Following termination of the pregnancy, the diagnosis was established by the presence of only hemoglobins Barts (γ4) and Portland (ζ2γ2) in the fetal blood. ( JAMA 241:1610-1612, 1979)

[1]  Y. Kan,et al.  ANTENATAL DIAGNOSIS OF SICKLE-CELL ANÆMIA BY D.N.A. ANALYSIS OF AMNIOTIC-FLUID CELLS , 1978, The Lancet.

[2]  R. Williamson,et al.  Analysis of the β-δ-globin gene loci in normal and hb lepore DNA: Direct determination of gene linkage and intergene distance , 1978, Cell.

[3]  H. Lazarus,et al.  Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. , 1978, The New England journal of medicine.

[4]  E. Barrett-Connor.  Latent and chronic infections imported from Southeast Asia. , 1978, Journal of the American Medical Association (JAMA).

[5]  Y. Kan,et al.  Diagnosis of Homozygous α-Thalassemia in Cultured Amniotic-Fluid Fibroblasts , 1978 .

[6]  J. Mears,et al.  Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders. , 1978, Proceedings of the National Academy of Sciences of the United States of America.

[7]  Y. Kan,et al.  Prenatal diagnosis of hemoglobin H disease. , 1978, The Journal of pediatrics.

[8]  Y. Kan.  Prenatal diagnosis of hemoglobin disorders. , 1977, Progress in hematology.

[9]  Y. Kan,et al.  Prenatal diagnosis of α-thalassemia: clinical application of molecular hybridization. , 1976 .

[10]  E. Southern.  Detection of specific sequences among DNA fragments separated by gel electrophoresis. , 1975, Journal of molecular biology.

[11]  H. Smith,et al.  Restriction endonucleases in the analysis and restructuring of dna molecules. , 1975, Annual review of biochemistry.

[12]  H. Varmus,et al.  Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis) , 1974, Nature.