TY - JOUR AU - Harteveld, Cornelis AU - Old, John PY - 2017 DA - 2017/08/14 TI - Carrier Screening for the Haemoglobinopathies: Past, Present and Future JO - OBM Genetics SP - 005 VL - 01 IS - 03 AB - Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention programmes for beta thalassaemia involving public education, carrier screening, genetic counselling and prenatal diagnosis in Mediterranean countries. The application of a wide variety of PCR-based molecular diagnostic techniques which allows the detection of the complete range of haemoglobinopathy mutations has led to the establishment of comprehensive national prevention programmes in many developing countries and also in countries such as those in Northern Europe in which the prevalence and heterogeneity of the haemoglobinopathies has been significantly increased by population immigration. Despite the great technological advances in mutation detection, the screening of haemoglobinopathies still requires the combined use of haematological and molecular techniques to arrive at an accurate diagnosis, and requires specialist knowledge of genotype/phenotype relationships because of the multitude of complex phenotypes which result from interactions between genotypes and co-inherited globin gene disorders relationships. The latest technological advances in mutation analysis techniques and the application of some of these for the noninvasive approach of analysis of fetal DNA in maternal blood are anticipated to improve haemoglobinopathy prevention programmes in the future. SN - 2577-5790 UR - https://doi.org/10.21926/obm.genet.1703005 DO - 10.21926/obm.genet.1703005 ID - Harteveld2017 ER -