A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom

Objective To demonstrate the value of a national register for surveillance of services for an inherited disorder. Methods Data from the United Kingdom Thalassaemia Register and the United K ingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combin ed in a database; these registers include all fetuses known to have been di agnosed with beta thalassaemia major, beta thalassaemia intermedia, or haem oglobin E/beta thalassaemia in the United Kingdom. Data were extracted to s how outcomes (selective abortion or live birth) of all fetuses and the stat us of those born with a disorder (alive, dead, successful bone marrow trans plant, or lost to follow-up) by parents' region of residence and ethnicity. Findings At the end of 1999 the register included 1074 patients, 807 of who m were alive and residing in the United Kingdom. A successful bone marrow t ransplant has been performed for 117 out of 581 (20%) patients born since 1 975. Residents of Pakistani origin are now the main group at risk in the Un ited Kingdom, replacing residents of Cypriot origin. This has led to a mark ed shift in the need for services from the south-east of England to the Mid lands and the north of England. Despite the acceptability of prenatal diagn osis, the proportion of affected births remains 50% higher than would be ex pected, reflecting a widespread failure to deliver timely screening and cou nselling to carriers. Even though effective treatment is available the annu al number of deaths is rising, indicating that better tolerated treatments are needed. Conclusion A national diagnosis register is a powerful instrument for monit oring the treatment and prevention of inherited disorders and for highlight ing correctable shortcomings. In view of the increasing possibilities for g enetic screening there is a strong case for central funding for such databa ses within modern health services.