A PCR‐based strategy to detect the common severe determinants of α thalassaemia
- 1 May 1992
- journal article
- Published by Wiley in British Journal of Haematology
- Vol. 81 (1) , 104-108
- https://doi.org/10.1111/j.1365-2141.1992.tb08180.x
Abstract
A rapid and inexpensive polymerase chain reaction (PCR) based strategy is described which detects the three common, severe α thalassaemia determinants observed in southeast Asia (——SEA) and the Mediterranean (——MED and —(α)20.5). Oligonucleotide primers have been chosen which allow specific identification of both normal (αα) and abnormal (——) chromosomes using identical conditions in either the same or parallel PCR reactions. This strategy should be useful in the development of screening programmes to identify carriers of α thalassaemia (——/αα) and prenatal diagnosis of the Hb Bart's hydrops fetalis syndrome (——/——) for those populations in which this represents a major cause of perinatal death.Keywords
This publication has 39 references indexed in Scilit:
- Hydrops fetalis due to Homozygosity for α-Thalassemia-1, -(α)-20.5 kb: The First Observation in a Turkish FamilyActa Haematologica, 1989
- Localisation of human alpha globin to 16p13.3----pter.Journal of Medical Genetics, 1988
- Alpha-Thalassemia in Northern ThailandHuman Heredity, 1988
- Structure and expression of the human θl globin geneNature, 1988
- Normal long-term survival with α-thalassemiaThe Journal of Pediatrics, 1986
- Embryonic ζ-Globin Chains in Adults: a Marker for α-Thalassemia-1 Haplotype Due to a >17.5-kb DeletionNew England Journal of Medicine, 1986
- The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogeneCell, 1982
- THE MOLECULAR BASIS FOR THE HAEMOGLOBIN BART'S HYDROPS FETALIS SYNDROME IN CYPRUSBritish Journal of Haematology, 1981
- Hydrops fetalis associated with Bart's hemoglobin in northern ThailandThe Journal of Pediatrics, 1968
- A Fast-moving Hæmoglobin in Hydrops FœtalisNature, 1960