Diagnosis of Homozygous α-Thalassemia in Cultured Amniotic-Fluid Fibroblasts
- 23 March 1978
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 298 (12) , 669-670
- https://doi.org/10.1056/nejm197803232981206
Abstract
THE α-thalassemias in Asian populations are primarily caused by deletion of the α-globin structural genes.1 2 3 4 5 6 In the fatal condition of homozygous α-thalassemia associated with hydrops fetalis, all four normally present α-globin structural genes are deleted. The moderate hemolytic anemia, hemoglobin-H disease, is due to the deletion of three of the four structural genes. This disease results from the combination of heterozygous α-thalassemia (α-thalassemia-1) and the silent carrier state (α-thalassemia-2) in which two and one of these genes are deleted respectively. A radioactive DNA (cDNA) that is synthesized with reverse transcriptase and complementary to α-globin mRNA is used to quantitate α-globin . . .This publication has 9 references indexed in Scilit:
- Prenatal diagnosis of hemoglobin H diseaseThe Journal of Pediatrics, 1978
- Identification of a Nondeletion Defect in α-ThalassemiaNew England Journal of Medicine, 1977
- Prenatal Diagnosis of α-ThalassemiaNew England Journal of Medicine, 1976
- Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracyJAMA, 1976
- Deletion of α-globin genes in haemoglobin-H disease demonstrates multiple α-globin structural lociNature, 1975
- Relative numbers of human globin genes assayed with purified alpha and beta complementary human DNA.Proceedings of the National Academy of Sciences, 1975
- Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)Nature, 1974
- Gene deletion as the cause of α thalassaemia: The severe form of α thalassaemia is caused by a haemoglobin gene deletionNature, 1974
- ALPHA‐ AND BETA‐THALASSEMIA IN THAILAND*Annals of the New York Academy of Sciences, 1969