Prenatal Diagnosis of the Hemoglobinopathies
The hemoglobinopathies are a diverse group of inherited recessive disorders consisting of the structural hemoglobin variants and the thalassemias. Together they form the commonest single-gene disorder in the world population and they are a serious public health problem in many countries. Although there is no definitive cure for the hemoglobinopathies, the methods of clinical management have improved considerably over the last few years and the life expectancy of affected individuals has been significantly increased. However, the treatment required is very expensive and is not a realistic means of controlling the disorders for many developing countries. Therefore several countries, especially those with a high incidence of β-thalassemia, are applying an alternative method of control, which involves screening the population for carriers, identifying the couples at risk, and providing a prenatal diagnosis service.
KeywordsPrenatal Diagnosis Globin Gene Chorionic Villus Restriction Enzyme Analysis Fetal Blood
Unable to display preview. Download preview PDF.
- Alter, B. P., 1983, Antenatal diagnosis using fetal blood, in: Methods in Hematology, Vol. 6, The Thalassaemias (D. J. Weatherall, ed.), p. 114, Churchill Livingstone, Edinburgh.Google Scholar
- Clegg, J. B., 1983, Hemoglobin synthesis, in: Methods in Hematology, Vol. 6, The Thalassaemias (D. J. Weatherall, ed.), p. 54, Churchill Livingstone, Edinburgh.Google Scholar
- Higgs, D. R., and Weatherall, D. J., 1983, Alpha thalassaemia, in: Current Topics in Haematology, Vol. 4 (S. Piomelli and S. Yachnin, eds.), p. 37, Liss, New York.Google Scholar
- Old, J. M., 1984, First trimester diagnosis of haemoglobinopathies by DNA analysis of chorionic villi, in: Prenatal Diagnosis (C. H. Rodeck and K. H. Nicholaides, eds), p. 105, Royal College of Obstetricians and Gynaecologists, London.Google Scholar
- Old, J. M., and Higgs, D. R., 1983, Gene analysis, in: Methods in Haematology, Vol. 6, The Thalassaemias (D. J. Weatherall, ed), p. 74, Churchill Livingstone, Edinburgh.Google Scholar
- Old, J. M., Petrou, M., Modell, B., et al., 1984, Feasibility of antenatal diagnosis of β-thalassemia by DNA polymorphisms in Asian Indians and Cypriot populations, Brit. J. Haemotol. 57:255.Google Scholar
- Old, J. M., 1987, Fetal DNA analysis, in: Genetic Analysis of Human Diseases: A Practical Approach (K. E. Davies, ed.), IRL Press, Oxford, England, (in press).Google Scholar
- Weatherall, D. J., and Clegg, J. B., 1981, The Thalassaemia Syndromes, 3rd ed., Blackwell, Oxford.Google Scholar
- WHO, 1983, Community control of hereditary anaemias: Memorandum from a WHO meeting, Bull. WHO 61(1):63.Google Scholar
- Wood, W. G., 1983, Hemoglobin analysis, in: Methods in Hematology, Vol. 6, The Thalassaemias (D. J. Weatherall, ed.), p. 31, Churchill Livingstone, Edinburgh.Google Scholar