Early results from the National Health Service Sickle Cell and Thalassaemia Screening programme covering the whole of England are reported following the implementation of the national newborn blood-spot screening programme. Of the 13 laboratories performing screening, 10 chose high-performance liquid chromatography as the first screen, with isoelectric focusing as the second confirmatory test. Screening results for
AimsThe overall aim of the new national newborn programme is to identify infants
at risk of sickle cell disease to allow early detection and to minimise
deaths and complications.MethodsUniversal screening for sickle cell disease was introduced in England between
September 2003 and July 2006. The 13 newborn laboratories each screen
between 25 000 and 110 000 babies a year using the
existing dried bloodspot cards. The specified conditions to be screened for
include sickle cell anaemia (Hb SS), Hb SC disease, Hb
S/β thalassaemia, Hb S/DPunjab
and Hb S/OArab. Data are reported on screening results by ethnic
group and geographical area.ResultsThe prevalence of screen positive results across England is 1:2000. There is
a 25-fold variation by geographical area. African babies make up 61% of all
screen positive results despite representing only 4% of total births.
Combined carrier rates vary widely by ethnicity, from 1.85 per 1000 (1:540)
in ‘White British’ to 145 per 1000 (1:7) in
‘African’ babies. Refusal rates for screening show
variation by ethnicity.ConclusionsThese results provide useful information both about the frequency of these
conditions and the carrier state and their geographic and ethnic
distribution across England. This can be used to refine counselling
information and are also useful to target and plan services and public
information.
Summary. Neonatal identification of sickle cell disease can significantly reduce mortality and morbidity during the first 5 years of life. During a 10-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; D Punjab(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.
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