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A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom.
Bull World Health Organ
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 Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with beta thalassaemia major, beta thalassaemia intermedia, or haemoglobin E/beta thalassaemia 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 patients, 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%) patients 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 deaths 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 inherited disorders 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.
|Title:||A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom.|
|Open access status:||An open access version is available from UCL Discovery|
|Keywords:||Adolescent, Adult, Bone Marrow Transplantation, Child, Child, Preschool, Female, Genome, Human, Great Britain, Health Services Needs and Demand, Humans, Middle Aged, National Health Programs, Population Surveillance, Pregnancy, Pregnancy Outcome, Prenatal Diagnosis, Quality of Health Care, Registries, beta-Thalassemia|
|UCL classification:||UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute for Women's Health > Maternal and Fetal Medicine
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health Care > CHIME
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health Care > Primary Care and Population Health
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