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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.

To demonstrate a method for using genetic epidemiological data to assess the needs for equitable and cost-effective services for the treatment and prevention of haemoglobin disorders. We obtained data on demographics and prevalence of gene variants responsible for haemoglobin disorders from online databases, reference resources, and published articles. A global epidemiological database for haemoglobin disorders by country was established, including five practical service indicators to express the needs for care (indicator 1) and prevention (indicators 2-5). Haemoglobin disorders present a significant health problem in 71% of 229 countries, and these 71% of countries include 89% of all births worldwide. Over 330 000 affected infants are born annually (83% sickle cell disorders, 17% thalassaemias). Haernoglobin disorders account for about 3.4% of deaths in children less than 5 years of age. Globally, around 7% of pregnant women carry 13 or [alpha] zero thalassaemia, or haemoglobin S, C, D Punjab or E, and over 1% of couples are at risk. Carriers and at-risk couples should be informed of their risk and the options for reducing it. Screening for haemoglobin disorders should form part of basic health services in most countries. Presentation d'une methode utilisant des donnees d'epidemiologie genetique pour evaluer les besoins en matiere de services equitables et d'un bon rapport cout/efficacite pour le traitement et la prevention des troubles de l'hemoglobine. Des donnees demographiques et de prevalence concernant les variants genetiques responsables des troubles de l'hemoglobine ont ete reunies a partir de bases de donnees en ligne, de sources de references et d'articles publies. Une base de donnees epidemiologiques mondiale sur les troubles de l'hemoglobine par pays a ete mise en place, en meme temps que cinq indicateurs de service pratiques, destines a evaluer les besoins en termes de soins (indicateur 1) et de prevention (indicateurs 2 a 5). Les pays ou les troubles de l'hemoglobine sont un probleme de sante important representent 71 % des 229 pays consideres et totalisent aussi 89 % de la natalite mondiale. Plus de 330 000 nourrissons naissent chaque annee avec de tels troubles (83 % avec une drepanocytose, 17 % avec une thalassemie). Les troubles de l'hemoglobine sont responsables d'environ 3,4 % des deces chez les moins de 5 ans. A l'echelle mondiale, 7 % environ des femmes enceintes sont porteuses d'une beta-thalassemie ou d'une alpha-zero-thalassemie, ou encore d'une hemoglobine S, C, D-Punjab ou E, et plus de 1 % des couples sont a risque. Les porteurs et les couples a risques doivent etre informes des dangers qu'ils encourent et des solutions pour les reduire. Le depistage des troubles de l'hemoglobine doit faire partie des services sanitaires de base de la plupart des pays. Demostrar la validez de un metodo basado en datos de epidemiologia genetica para evaluar las necesidades de servicios equitativos y costoeficaces de tratamiento y prevencien de las hemoglobinopatias. Se obtuvieron datos demograficos y sobre la prevalencia de las distintas variantes de genes causantes de hemoglobinopatias a partir de bases de datos en linea, de referencias y de articulos publicados. Se creo una base de datos epidemiolegica mundial sobre las hemoglobinopatias pot paises, incluidos cinco indicadores practicos de servicios para expresar las necesidades de atencien (indicador 1) y de prevencien (indicadores 2 a 5). Las hemoglobinopatias representan un importante problema sanitario en un 71% de les 229 paises considerados, y en ese 71% se producen el 89% de todos les nacimientos. Cada ano nacen mas de 330 000 nicos afectados (83% de casos de anemia de celulas falciformes y 17% de casos de talasemia). Las hemoglobinopatias causan aproximadamente un 3,4% de las defunciones entre los nicos menores de 5 anos. A nivel mundial, en torno a un 7% de las mujeres embarazadas son portadoras de talasemia [beta] o [alpha] cero, o de hemoglobina S, C, D Punjab o E, y mas de un 1% de las parejas corren riesgo. Se deberia informar a los portadores y a las parejas en riesgo de ese peligro y de las opciones para mitigarlo. El cribado de las hemoglobinopatias deberia formar parte de los servicios basicos de salud en la mayoria de los paises. [TEXT NOT REPRODUCIBLE IN ASCII.], Introduction Inherited haemoglobin disorders (sickle-cell disorders and thalassaemias) were originally characteristic of the tropics and subtropics but are now common worldwide due to migration. (1-4) Since they can be controlled [...]

Researchers document the usefulness of genetic screening in countries where cultural values encourage people to marry someone who may be related to them. Therefore, a gene mutation may occur often in the extended families of the couple if the couple has a child with a genetic disorder. One a child is diagnosed, the entire extended family can be screened.

Abstract Background The UK Thalassaemia Register records births, deaths and selected clinical data of patients with thalassaemia who are resident in the UK. A study of survival and causes of death was undertaken which aimed to include the possible impact of T2* cardiovascular magnetic resonance (CMR). Methods The Register was updated to the end of 2003, copies of death certificates were obtained, and causes of death in beta thalassaemia major were extracted. In addition, patients who had T2* CMR assessment of cardiac iron load and/or received the oral iron chelator deferiprone were identified from clinical records. Results The main causes of death were anaemia (before 1980), infections, complications of bone marrow transplantation and cardiac disease due to iron overload. From 1980 to 1999 there were 12.7 deaths from all causes per 1,000 patient years. Forty per cent of patients born before 1980 had T2* cardiovascular magnetic resonance between 2000 and 2003, and 36% of these patients were prescribed deferiprone before end of 2003. In 2000–2003, the death rate from all causes fell significantly to 4.3 per 1,000 patient years (-62%, p < 0.05). This was mainly driven by the reduction in the rate of deaths from iron overload which fell from 7.9 to 2.3 deaths per 1,000 patient years (-71%, p < 0.05). Conclusion Since 1999, there has been a marked improvement in survival in thalassaemia major in the UK, which has been mainly driven by a reduction in deaths due to cardiac iron overload. The most likely causes for this include the introduction of T2* CMR to identify myocardial siderosis and appropriate intensification of iron chelation treatment, alongside other improvements in clinical care.