Search PubMed⌕ Search

Biomedical subjects

B Modell

Publications and source records attributed to B Modell.

At least 19 recordsLinked to original sources
PubMed2005

Quality of life in thalassemia.

Morbidity and mortality related to thalassemia have been reduced significantly with modern medical treatment, and quality of life (QOL) should now be considered an important index of effective health care. An assessment of QOL differs from other forms of medical assessment in that it focuses on the individuals' own views of their well-being and assesses other aspects of life, giving a more holistic view of well-being. There is very little published work on evaluation of QOL in thalassemia. A suitable tool should be reproducible, sensitive to the major features of the condition that affect patients' lives, and applicable in the range of different cultural, age, and social settings. Such an instrument would be valuable in evaluating new forms of treatment and in comparing health outcomes between different clinics. Two instruments have been assessed, one derived from the WHOQOL-100 questionnaire, and one designed specifically for thalassemia, which assesses psychosocial and clinical burden, as they affect adult patients, parents, and children. Further studies are required to develop and assess such tools for use in thalassemia. Another approach is to seek patients' own views of their routine treatment and the extent to which medical treatment affects QOL. Results from patient questionnaires in the United Kingdom and Cyprus are consistent in finding problems with organization of transfusions, insufficient options with chelation therapy, and poor communication. Practical measures could be taken to address these issues.

Adolescent↗
PubMed2001

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 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.

Adolescent↗
PubMed2000

Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry.

OBJECTIVE: National audit of informed choice in antenatal screening for thalassaemia. DESIGN: Audit from the UK Confidential Enquiry into Counselling for Genetic Disorders. SETTING: Thalassaemia module of the UK Confidential Enquiry into Counselling for Genetic Disorders. SUBJECTS: 138 of 156 couples who had had a pregnancy affected by a major beta thalassaemia from 1990 to 1994. MAIN OUTCOME MEASURES: How and when genetic risk was identified for each couple, and whether and when prenatal diagnosis was offered. RESULTS: Risk was detected by screening before or during the first pregnancy in 49% (68/138) of couples and by diagnosis of an affected child in 28% (38/138) of couples. Prenatal diagnosis was offered in 69% (274/400) of pregnancies, ranging from 94% (122/130) for British Cypriots to 54% (80/149) for British Pakistanis and from 90% in the south east of England to 39% in the West Midlands. Uptake of prenatal diagnosis was 80% (216/274), ranging from 98% (117/120) among British Cypriots in either the first or second trimester to 73% (35/48) among British Pakistanis in the first trimester and 39% (11/28) in the second trimester. A demonstrable service failure occurred in 28% (110/400) of pregnancies, including 110 of 126 where prenatal diagnosis was not offered and 48 of 93 that ended with an affected liveborn infant. CONCLUSION: Although antenatal screening and counselling for haemoglobin disorders are standard practices in the United Kingdom, they are delivered inadequately and inequitably. An explicit national policy is needed, aiming to make prenatal diagnosis in the first trimester available to all couples and including ongoing national audit.

Choice Behavior↗
PubMed2000

Long-term effect of prospective detection of high genetic risk on couples' reproductive life: data for thalassaemia.

Prospective risk detection with availability of prenatal diagnosis is the best service currently available for couples at high genetic risk Here we describe the long term effect of this service on the reproductive life of 102 couples at risk of thalassaemia, whose risk was detected prospectively by carrier screening, who made use of prenatal diagnosis, and where the woman is now over 40. Overall outcome for couples is described in terms of number of favourable versus unfavourable pregnancy outcomes. (A favourable pregnancy outcome = unaffected livebirth, or affected livebirth resulting from informed parental choice.) The 102 couples had a total of 356 pregnancies, including 302 viable pregnancies, and 88% achieved a family unburdened by thalassaemia. 68% of viable pregnancies had a favourable outcome, but only 43% of couples had only favourable outcomes, and 26% lost two or more viable wanted pregnancies. When early losses are included 58% of pregnancies had a favourable outcome, but only 30% of couples had only favourable outcomes, and 41% lost two or more pregnancies. Even with the best available service, at risk couples remain victims of chance, and a significant minority experience great difficulty in obtaining even one healthy child. Research is needed on approaches that may allow couples better control of reproductive outcomes.

Adult↗
PubMed2000

Prenatal diagnosis of beta-thalassaemia in Pakistan: experience in a Muslim country.

A service for prenatal diagnosis of beta-thalassaemia was introduced in Pakistan in May 1994. Two renowned Islamic scholars, consulted before the service was introduced, ruled that a pregnancy can be terminated if the fetus is affected by a serious genetic disorder, and if termination is before 120 days (17 weeks) of gestation. During the first 3(1/2) years of the service 300 couples requested the test. Almost all the couples had been informed by their treating doctors. Most diagnoses were made between 10 and 16 weeks of gestation, and only 15 (5%) were reached after the 16th week. DNA analysis was by the amplification refractory mutation system (ARMS). A multiplex ARMS was developed in which three primer combinations identified the mutations in 91.5% of the couples. In 13 couples (4. 3%) linkage analysis was required for the fetal diagnosis. In 47/53 (88.7%) women carrying an affected fetus the pregnancy was terminated. In six cases it was declined principally on religious grounds. Postnatal confirmation of the prenatal diagnosis was possible in 117 unaffected children. One year after the start of the service, interviews with 141 couples with an affected child showed that 72% knew of the availability of prenatal diagnosis. Thirty-two of the informed couples had had a pregnancy, but only 18 (56%) used prenatal diagnosis. The main reasons for non-utilization of prenatal diagnosis were the cost of the test and fear of undergoing the test, though some gave no clear explanation. This study demonstrates that prenatal diagnosis is feasible and acceptable in a Muslim country such as Pakistan.

Attitude↗
PubMed2000

Accuracy of prenatal diagnosis for haemoglobin disorders in the UK: 25 years' experience.

We have reviewed the accuracy of prenatal diagnosis for the thalassaemias and sickle cell disorders performed for UK residents since the service began in 1974. Prenatal diagnosis has been performed in 3254 pregnancies: 517 by fetal blood analysis, 681 by Southern blotting and 2056 by polymerase chain reaction (PCR) methods, the majority using the amplification refractory mutation system (ARMS). The number of homozygotes diagnosed was 808 (24.8%). Twenty-five diagnostic errors have been recorded, ten arising from non-laboratory errors (0.31%) and 15 due to technical problems associated with the diagnostic techniques. The latter group consisted of eight misdiagnoses by globin chain synthesis (1.55%), five by Southern blot analysis (0.73%) and two by PCR methods (0. 10%). The data show that the accuracy of prenatal diagnosis has improved with each development of diagnostic technique, and confirms that prenatal diagnosis of beta-thalassaemia and sickle cell disorders by ARMS-PCR is very accurate and reliable. The overall error rate for prenatal diagnosis by PCR methods in the UK is now 0. 41%.

Blotting, Southern↗
PubMed2000

Study of hemoglobinopathies in Oman through a national register.

OBJECTIVES: A national register of symptomatic hemoglobinopathies has been developed in Oman to facilitate the development of the National Program for the control of genetic blood disorders. METHODS: The information was initially collected retrospectively through hospital records and was refined prospectively with data collected through a survey of pediatricians. The percentages of heterozygotes in different population groups and geographical locations, birth prevalence, age distribution of cases and factors determining frequencies of Hemoglobinopathies in different regions of the country were studied from the register. RESULTS: The register has identified 1757 cases of homozygous Sickle Cell Anemia and 243 cases of beta-thalassemia major in a population of 1.5 million in 1995. Register based national figures of heterozygote carriers approximate 10% for Sickle Cell Anemia and 4% for beta-thalassemia major. CONCLUSION: Defining regional and tribal variations can assist efficient targeting of health resources. This approach provides a simple model for other countries or regions to follow providing there is a health care system that facilitates registration.

Adolescent↗
PubMed1999

Mapping the prevalence of sickle cell and beta thalassaemia in England: estimating and validating ethnic-specific rates.

A range of estimates for sickle cell and beta thalassaemia have been derived for the different ethnic groups living in the U.K., reflecting uncertainty over the true population value in certain countries and the heterogeneity within and between countries of origin comprising the same ethnic group. These were validated against six community screening programmes, with the estimated range correctly predicting the number of affected births observed by the programmes. In England approximately 3000 affected babies (0.47%) carry sickle cell trait and 2800 (0.44%) carry beta thalassaemia trait annually: with approximately 178 (0.28 per 1000 conceptions) affected by sickle cell disease (SCD) and 43 (0.07 per 1000) by beta thalassaemia major/intermedia. Allowing for termination, about 140-175 (0.22-0.28 per 1000) affected infants are born annually with SCD and from 10 to 25 (0.02-0.04 per 1000) with beta thalassaemia major/intermedia. These are the first evidence-based rates for sickle cell and beta thalassaemia for use in the U.K., and should underpin the future planning of services. The long-term solution to monitoring changes in the rates of trait and disease in the population is to introduce a standardized instrument for collecting ethnicity for all community screening programmes.

Africa↗
PubMed1999

Lifetime treatment costs of beta-thalassaemia major.

Beta-thalassaemia major is a serious genetic disorder, which results in a considerable increase in both acute and chronic morbidity, and mortality. Although beta-thalassaemia major is a rare disease affecting approximately 600 people in the UK, treatment is intensive and predictions of the costs incurred may aid health care planning. In this report, the cost to the health service of providing treatment services for beta-thalassaemia major patients, over the course of a lifetime, is calculated in order to assist resource allocation decisions. A cost model was developed, incorporating data from disparate sources. The undiscounted lifetime cost of treating a beta-thalassaemia major patient was estimated to be pound 803,002, although when the costs were discounted at a rate of 6%, the lifetime cost was reduced to pound 219,068. Within sensitivity analyses, the discounted cost ranged from approximately pound 188,000 to pound 226,000. This report may act as a guide to those involved in the planning of health care provision with regard to the resources required to treat beta-thalassaemia major patients. Such information may also be incorporated into the decision-making process for the provision of antenatal screening programmes for beta-thalassaemia major.

Adolescent↗
PubMed1999

National Confidential Enquiry into counselling for genetic disorders by non-geneticists: general recommendations and specific standards for improving care.

OBJECTIVES: To assess genetic counselling by non-geneticists and to improve clinical practice. DESIGN: National retrospective review of casenotes. SETTING: Antenatal, paediatric, medical, and surgical units. SAMPLE: 1293 genetic events were identified, involving potentially avoidable cases of Down's syndrome, neural tube defect, cystic fibrosis, beta thalassaemia major and late onset medullary carcinoma of the thyroid (multiple endocrine neoplasia). Notes were available for review in 888 (69%) of these cases. OUTCOMES: Documented counselling, offers of relevant genetic screening and prenatal diagnosis. RESULTS: Clinical audit was frustrated by poor quality hospital records lacking evidence of counselling. Non-geneticist clinicians concentrate on the management of disease, and may overlook the need for counselling and recording data which patients will later need for decisions about reproduction or disease prevention. Counselling, screening and prenatal diagnosis were sometimes impossible because of late booking in pregnancy, or because of delayed diagnosis of an earlier affected child with cystic fibrosis. There are marked regional inequalities of access to genetic services, particularly for minority ethnic groups with increased risks of thalassaemia. Although patients were selected for this enquiry because they had known high risks of genetic disorders, on average less than half were referred to medical geneticists. General recommendations relevant for improvement of care for patients and families with medical genetic needs and those specific for each disorder are given. CONCLUSIONS: Assessment of the quality of genetic care becomes increasingly important as genetic counselling spreads beyond the narrow confines of specialist genetic services. Even though the events studied in this enquiry largely occurred between 1991 and 1995, there is little reason to believe that clinicians in general have become markedly better trained in medical genetics. The General Medical Council and Medical Royal Colleges should urgently consider the need for a national policy for improving undergraduate and postgraduate medical, nursing and midwifery education in genetics. Commissioners of clinical services should require that genetic management be at least as well-documented as surgical operations, drug records and informed consent, perhaps by using a nationally agreed pro-forma for prenatal diagnosis. Regular audit of counselling provided by non-geneticists is necessary to confirm that clinical improvements are occurring and standards are being met. The Confidential Enquiry provides data for a systematic approach to clinical governance of genetics in all specialities. This sets the scene for multi-speciality NHS genetic services capable of giving patients greater consistency both in access and in quality.

Clinical Competence↗
PubMed1998

A multidisciplinary approach for improving services in primary care: randomised controlled trial of screening for haemoglobin disorders.

OBJECTIVE: To investigate the feasibility of improving screening for carriers of haemoglobin disorders in general practice by using a nurse facilitator to work with primary care teams and the relevant haematology laboratories; to identify problems in communication between all those involved in delivering the service, and to implement solutions. DESIGN: Two year, practice based randomised controlled trial. SETTING: North London area where 29% of residents and 43% of births are in ethnic groups at risk for haemoglobin disorders. SUBJECTS: 26 of the 93 practices using the services of the area's haematology laboratory agreed to take part and were randomly divided into control and intervention practices. MAIN OUTCOME MEASURE: Change in number of requests for screening tests for haemoglobin disorders made by control and intervention practices in baseline and intervention years. RESULTS: The number of screening tests requested varied from 0-150 in the 93 practices in the baseline year. Study practices tended to have made a moderate number of requests (10-50) during this period. During the intervention year intervention practices made 292 more requests (99% increase) and control practices made 74 fewer requests (23% decrease; P=0.001 for difference in median change). Four practices, three of which were singlehanded, accounted for 75% of the increase. The number of requests from intervention practices, adjusted for baseline requests, was 3.2 times higher than control practices (P<0.0001). CONCLUSION: General practitioners and practice nurses are willing to undertake a new genetic screening service (or expand an existing one) if they are persuaded that it benefits the health of a significant proportion of their practice population. They need appropriate tools (for example, information materials for carriers and groups at risk), and the laboratory must be sensitive to their needs. Preconceptional carrier screening and counselling need to be coupled with antenatal screening.

Communication↗
PubMed1998

Global epidemiology of hemoglobin disorders.

Thalassemias and the hemoglobinopathies such as Hemoglobins S, C and E, are now a global problem. They have spread through migration from their native areas in the Mediterranean, Africa and Asia and are now endemic throughout Europe, the Americas and Australia. Comprehensive control programs in recent years have succeeded in limiting the numbers of new births and prolonging life in affected individuals. Such programs have been successful in a minority of countries and have little global impact. Over 300,000 infants with major syndromes are born every year and the majority die undiagnosed, untreated or under-treated. Countries may be divided into three general categories according to the services available: A. Endemic Mediterranean countries. In these long-established prevention programs have succeeded in achieving 80%-100% prevention. Specialized clinics able to provide optimum treatment. B. Areas of the developed, industrialized world where prevalence is increasing because of migration. These countries have the means to provide adequate control but have problems in reaching immigrant groups with different cultural background. C. Countries of the developing world where the provision of services is hampered by economic difficulties, other health priorities due to high infant mortality from infectious diseases, and religious/cultural constraints.

Genetic Carrier Screening↗