Neonatal screening for haemoglobinopathies: The results of a 10-year programme in an English Health Region

Abstract

Neonatal identification of sickle cell disease can significantly reduce mortality and morbidity during the first 5 years of life. During a l0-year period. 414 801 neonates were screened by isoelectric focusing. The most common variants detected were haemoglobins S, C, D and E. Two hundred and fifty of the samples tested were homozygotes or compound heterozygotes, and 6554 samples were heterozygotes for the common variants. The gene frequencies in the population tested were calculated from this data for the most common variants. They were: S, 0.0057; C, 0.0014; DPunjab(Los Angeles), 0.0007; E, 0.0005. Additionally, 16 babies had beta thalassaemia major and 405 had rarer variants, of which six had never previously been described. Knowledge of the distribution of these inherited diseases is useful in healthcare planning and appropriate allocation of resources, while counselling targeted at appropriate couples enables informed parental choice and may prevent disease.