Thalassaemia as a model of recessive genetic disease in the community.
In order to gain understanding of some of the problems of genetic counseling for a severe recessive disease in England, a Greek Cypriot extended family including 87 living members and known to be transmitting a beta-thalassaemia gene was investigated for the extent and the sources of their knowledge about thalassaemia. 42% of members tested carried beta-thalassaemia trait: nearly half were already aware of this, but only 10% of the non-carriers were aware of their status. The study illustrated many of the difficulties in conveying accurate counselling to a whole community and the need for active involvement of all health workers, especially general practitioners. This study is also relevant to the approaching possibility of genetic counseling for cystic fibrosis.
D003535:Cyprus / Q000208:ethnology; D004739:England; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006266:Health Education; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D013789:Thalassemia / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*