Implementation of universal newborn bloodspot screening for sickle cell disease and other clinically significant haemoglobinopathies in England: screening results for 2005-7.

Early results from the National Health Service Sickle Cell and Thalassaemia Screening programme covering the whole of England are reported following the implementation of the national newborn blood-spot screening programme. Of the 13 laboratories performing screening, 10 chose high-performance liquid chromatography as the first screen, with isoelectric focusing as the second confirmatory test. Screening results for April 2005 to March 2007 are presented and include data from all the laboratories screening newborns in England, and almost 1.2 million infants. The screen-positive results show a national birth prevalence of almost 1 in 2000. The birth prevalence in London is five times that of most of the rest of the country. Over 17,000 carriers have been identified. Approximately seven per 1000 samples are reported as post-transfusion with wide ethnic category variation. Given the prevalence of the conditions, and coverage by ethnicity, 3-4 screen-positive cases could be missed each year. National implementation of newborn screening in England has increased the number of children identified with sickle cell disease, in many areas almost doubling the workload. Underascertainment of the condition has allowed a downplaying of the scale of need. It may also have contributed to infant mortality rates in urban areas as babies died without a diagnosis or treatment. The value of a co-ordinated national approach to policy development and implementation is emphasised by the English experience. The programme provides a model for Europe as well as other countries with significant minority populations, such as Canada. Potentially it also offers important lessons for Africa where the World Health Organization is supporting the introduction of newborn screening.

Experiences of hospital care and treatment seeking for pain from sickle cell disease: qualitative study.

OBJECTIVE: To investigate how sociocultural factors influence management of pain from sickle cell disease by comparing the experiences of those who usually manage their pain at home with those who are more frequently admitted to hospital for management of their pain. DESIGN: Qualitative analysis of semistructured individual interviews and focus group discussions. PARTICIPANTS: 57 participants with genotype SS or S/beta-thal (44 subjects) or SC (9) (4 were unknown). 40 participants took part in focus groups, six took part in both focus groups and interviews, and nine were interviewed only. Participants were allocated to focus groups according to number of hospital admissions for painful crisis management during the previous year, ethnic origin, and sex. RESULTS: The relation between patients with sickle cell disease and hospital services is one of several major non-clinical dimensions shaping experiences of pain management and behaviour for seeking health care. Experiences of hospital care show a range of interrelated themes, which are common to most participants across variables of sex, ethnicity, and hospital attended: mistrust of patients with sickle cell disease; stigmatisation; excessive control (including both over- and undertreatment of pain); and neglect. Individuals respond to the challenge of negotiating care with various strategies. Patients with sickle cell disease who are frequently admitted to hospital may try to develop long term relationships with their carers, may become passive or aggressive in their interactions with health professionals, or may regularly attend different hospitals. Those individuals who usually manage their pain at home express a strong sense of self responsibility for their management of pain and advocate self education, assertiveness, and resistance as strategies towards hospital services. CONCLUSIONS: The current organisation and delivery of management of pain for sickle cell crisis discourage self reliance and encourage hospital dependence. Models of care should recognise the chronic nature of sickle cell disorders and prioritise patients' involvement in their care.

Experiences of hospital care and treatment-seeking behavior for pain from sickle cell disease: qualitative study.

OBJECTIVE: To investigate how sociocultural factors influence the management of pain from sickle cell disease by comparing the experiences of those who usually manage their pain at home with the experiences of those who are more frequently admitted to hospital for management of their pain. DESIGN: Qualitative analysis of semistructured individual interviews and focus group discussions. PARTICIPANTS: 57 participants with genotype SS or S/beta-thal (44 participants) or SC (9 participants); the status of 4 participants was unknown. 40 participants took part in focus groups, 6 took part in both focus groups and interviews, and 9 were interviewed only. Participants were allocated to focus groups according to ethnic origin, sex, and the number of times that they had been admitted to the hospital for the management of painful crises during the previous year. RESULTS: The relation between patients with sickle cell disease and hospital services is one of several major, nonclinical dimensions that shape experiences of pain management and behavior for seeking health care. Participants' experiences of hospital care show a range of interrelated themes that are common to most participants across variables of sex, ethnicity, and which hospital was attended. Themes identified included the mistrust of patients with sickle cell disease, stigmatization, excessive control (including both overtreatment and undertreatment of pain) and neglect. Individuals responded to the challenge of negotiating care with various strategies. Patients with sickle cell disease who are frequently admitted to hospital may try to develop long-term relationships with their caregivers, become passive or aggressive in their interactions with health professionals, or regularly attend different hospitals. Those who usually manage their pain at home expressed a strong sense of responsibility for the management of their pain and advocated self-education, assertiveness, and resistance as strategies toward hospital services. CONCLUSIONS: The organization and delivery of management for the pain of a sickle cell crisis discourages self-reliance and encourages hospital dependence. Models of care should recognize the chronic nature of sickle cell disorders and give priority to patients' involvement in their care.

Impact of incomplete coverage of neonatal dried blood spot screening on estimating HIV-1 seroprevalence.

The aim of this study was to determine the extent to which selective under-coverage of births to mothers more likely to be at risk of HIV-1 infection will result in a significant under-estimation of the true neonatal seroprevalence. Census data, local birth statistics, maternity data and data from the prevalence monitoring programme were used to produce a model to predict the effects of under-coverage in the uptake of neonatal metabolic screening which has been observed in babies with a mother of ethnic group black African. The adjustment factor which allows for under-coverage is the relative inclusion ratio (RIR); the probability that samples from a group at different risk of HIV infection were included in the survey divided by the probability of inclusion for samples from all other babies. The RIR was found to be close to unity (0.97), indicating a minimal bias. Under usual conditions only if the relative inclusion ratio (RIR) declined to values of 0.87 or below would there be a substantial bias. Despite some selective under representation, the results obtained from the Unlinked Anonymous HIV Monitoring Programme Dried Blood Spot Survey would seem to identify levels of prevalence in the population of child-bearing women with a good degree of accuracy and remains a useful tool for resource allocation, planning of services, provision of care and counselling.

PIP: Census data, local fertility statistics, maternity data, and data from the HIV-1 prevalence monitoring program were used to develop a model to predict the effects of under-coverage of neonatal dried spot screening, which has been observed in infants with mothers of the Black African ethnic group. The data and statistics were limited to South London, England, which included the boroughs of Lambeth, West Lambeth, Southwark, and Camberwell. The model assumed HIV-1 prevalence values for African mothers to be 0-20% and 0-0.5% for all other mothers. It assumed a general fertility rate of 160/1000 for African mothers and 64/1000 for all other mothers. Coverage for neonatal dried spot screening was assumed to be 95.6% for African mothers and 98.15% for all other mothers. The relative inclusion ratio (RIR) (the probability that samples from a group at different risk of HIV infection were included in the survey divided by the probability of inclusion for samples from all other infants) was used as the adjustment factor allowing for under-coverage. The RIR was close to unity (0.975) (i.e., 95.6% actual coverage for African mothers in South London divided by 98.15% for all other mothers in South London), suggesting minimal bias. Under usual conditions, substantial bias would not occur unless RIR fell to values of 0.87 (i.e., coverage of 86% divided by 98.15%) or below. When HIV-1 prevalence was assumed to be 0.3% in all others, there was no difference between true and observed HIV-1 prevalence until it reached 3% in African mothers. At 3% HIV-1 prevalence for African mothers and 0.3% for all others, the difference was only 0.01% (i.e., observed prevalence of 0.34% compared to a true prevalence of 0.35%). These findings suggest that the Unlinked Anonymous HIV Monitoring Programme Dried Blood Spot Survey appears to identify accurately levels of HIV prevalence in the population of reproductive age women. It is still a useful tool for resource allocation, planning of services, provision of care, and counseling.

Changing trends in the epidemiology of malignant melanoma: gender differences and their implications for public health.

BACKGROUND: Skin cancer has been identified as a key area in the English health strategy. Review of trends in the epidemiology of melanoma by age, sex and social class can contribute to ensuring that preventive efforts are targeted appropriately and subsequently to monitoring the effects of campaigns. METHODS: Descriptive epidemiological study using data for both sexes from cancer registrations by age (England & Wales 1971-1989), and from mortality statistics by age (England & Wales 1951-1970, England 1969-1992) and by social class (England & Wales 1970-1972 for men and women, England & Wales 1979-1980, 1982-1983 for men and Great Britain 1979-1980, 1982-1983 for women). Analysis used age-standardized and age-specific registration rates by sex, age-standardized and age-specific mortality rates by sex and standardized mortality ratios by sex and by social class. Cohort effects are presented based on model fitting of age- and cohort-specific mortality rates for the period 1950-1989. RESULTS: Registration rates of new cases of malignant melanoma increased sharply in both sexes between 1971 and 1989 by 190% in men and 137% in women. Between 1970/1972 and 1990/1992 age-standardized mortality rates increased by 92% in men and 43% in women. In the 15-34 age group mortality rates have declined in women since the late 1970s whilst remaining level in men. The pattern of significantly higher mortality for both men and women in non-manual occupational groups had by the early 1980s diminished in women although it remained in men. In non-manual groups the mortality rate was higher in men than in women whilst for manual groups the opposite was true. CONCLUSION: A difference in trends in mortality from malignant melanoma between the sexes was demonstrated. Men are an important target group for preventive efforts despite their lower incidence of melanoma. They have a higher mortality rate which is increasing, less knowledge about appropriate primary and secondary preventive measures, present later with disease and respond less to traditional health education approaches. The findings have implications for the planning of primary and secondary prevention programmes.

Variation in coverage by ethnic group of neonatal (Guthrie) screening programme in south London.

OBJECTIVES: To determine whether coverage of the neonatal (Guthrie) screening programme in Britain is different for groups at highest risk of sickle cell disease and to identify possible reasons for incomplete coverage. DESIGN: Descriptive study of coverage of screening programme and its variation by mobility, district of residence, and ethnic group. SUBJECTS: 1727 infants born between 1 October and 31 December 1991. SETTING: Former West Lambeth and Camberwell District Health Authorities, London. MAIN OUTCOME MEASURE: Proportion of infants with an identifiable screening test result. RESULTS: Screening covered 1663/1727 (96.3%) infants overall (745/786 (94.8%) in West Lambeth; 918/941 (97.6%) in Camberwell). The relative odds ratio of an African infant not having been tested compared with a white infant was 3.05 (95% confidence interval 1.30 to 7.14) (2.08 (0.86 to 5.01) after adjustment for mobility and district of residence). For infants whose families moved into the districts after the birth compared with those born and resident in the districts the relative odds ratio of having been tested was 10.16 (4.85 to 21.29). The odds ratio of locally delivered infants in West Lambeth not having been tested compared with those in Camberwell was 2.12 (1.08 to 4.16) after adjustment for ethnic group. CONCLUSION: Coverage of the screening programme is incomplete and poorer in infants of African ethnic group than in white infants. Poorer coverage is also associated with mobility of the family around the time of birth. The findings have implications for using the neonatal programme for testing for sickle cell disease and other disorders. Arrangements for monitoring the existing screening programme are inadequate and an improved system should be established, similar to the scheme that monitors the immunisation programme.

Traveller Gypsies and childhood immunization: a study in east London.

The immunization status of the children of Traveller Gypsies presenting to two general practices and a paediatric accident and emergency department in east London between July 1988 and February 1990 was compared with that of a control group presenting to the same services. Study of parental reports and other records for 72 Traveller Gypsy children and 106 control children aged 10 months to six years revealed that Traveller Gypsy children had significantly lower completion rates for pertussis, measles, diphtheria/tetanus and poliomyelitis vaccines than the control group. The difference between the uptake of the first and third diphtheria/tetanus, pertussis and poliomyelitis vaccines was significantly greater among the Traveller Gypsy children than among the control group. The low immunization rates are due to poor access to services as well as rejection of certain vaccines by Traveller Gypsies. The 1990 general practitioner contract and reforms to the health service may result in decreased access for Traveller Gypsies unless steps are taken by family health services and district health authorities to meet the health care needs of this group. Possible solutions to this problem include outreach services to caravan sites, opportunistic immunization, better records and targeted health education.