OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an @entity74 . METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with @entity5357 major, @entity5357 intermedia, or haemoglobin @entity18721 in the United Kingdom. Data were extracted to show outcomes (selective abortion or live birth) of all fetuses and the status of those born with a disorder (alive, dead, successful bone marrow transplant, or lost to follow-up) by parents' region of residence and ethnicity. FINDINGS: At the end of 1999 the register included 1074 @entity1 , 807 of whom were alive and residing in the United Kingdom. A successful bone marrow transplant has been performed for 117 out of 581 (20%) @entity1 born since 1975. Residents of Pakistani origin are now the main group at risk in the United Kingdom, replacing residents of Cypriot origin. This has led to a marked shift in the need for services from the south-east of England to the Midlands and the north of England. Despite the acceptability of prenatal diagnosis, the proportion of affected births remains 50% higher than would be expected, reflecting a widespread failure to deliver timely screening and counselling to carriers. Even though effective treatment is available the annual number of @entity204 is rising, indicating that better tolerated treatments are needed. CONCLUSION: A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of @entity74 and for highlighting correctable shortcomings. In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services.

A national register for surveillance of XXXX : @entity5357 in the United Kingdom.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity18721 :: ('MESH:D016751', 'Disease') :: ['E/beta thalassaemia'] @entity5357 :: ('MESH:D012497', 'Disease') :: ['beta thalassaemia'] @entity74 :: ('MESH:D030342', 'Disease') :: ['inherited disorders', 'inherited disorder'] @entity204 :: ('MESH:D003643', 'Disease') :: ['deaths']
@entity74 :: (MESH:D030342,Disease) :: ['inherited disorders']
