One year of neonatal screening for sickle-cell disease in Emma Children's Hospital/Academic Medical Center in Amsterdam

OBJECTIVE: Early detection of children with sickle cell disease, determination of carriership frequency as well as evaluation of the knowledge regarding this haemoglobinopathy in various ethnic risk groups. DESIGN: Prospective. METHODS: From 1 November 1998 through to 31 October 1999, the ethnic background was recorded for consecutive pregnant women under care of the Academic Medical Centre, Amsterdam, the Netherlands, and the presence of carriership for sickle cell disease was evaluated. Carriers were asked about their knowledge of sickle cell disease. A diagnostic blood test of cord blood was also performed using a PCR which could detect both haemoglobin S and C mutations. RESULTS: Fifty-five carriers were detected in a group of 1,016 investigated pregnant women (5.4%). The carriership frequencies in Surinam and African women were 12 and 15.7%, respectively. Knowledge of sickle cell disease, its occurrence in populations at risk, as well as the terms 'inheritance' and 'carriership', differed substantially between Surinam and African women, with awareness being lower in the latter group. In six cases informed consent was not asked. All other 49 carriers consented to a diagnostic test. Two intrauterine deaths occurred. Four children had sickle cell disease: three had HbSS, one had HbSC. Nineteen children proved to be carriers for sickle cell disease, 18 were heterozygotes for HbS, one for HbC. CONCLUSION: This targeted neonatal screening for sickle cell disease was feasible in a hospital setting. The number of children diagnosed with the disease supports the wider implementation of this method of early detection.     

Evaluation of coverage by a neonatal screening program for hemoglobinopathies in the Recôncavo region of Bahia, Brazil

In 2001, government ruling n. MS 822/01 by the Brazilian Ministry of Health made neonatal screening mandatory for hemoglobinopathies, with special focus on sickle cell disease, the most common hemoglobinopathy in Brazil. Bahia is the State of Brazil with the highest prevalence of this disease. The current paper reports on the prevalence of hemoglobin variants HbS and HbC, which cause sickle cell disease, in the cities of Cachoeira, Maragogipe, and S?o Félix, Bahia State. The overall proportion of carriers for the two forms of hemoglobin was 13%. From 2001 to 2003, the neonatal screening rate decreased from 82.6% to 46.4% in Cachoeira and increased from 37.0% to 56.2% in Maragogipe. Thus, only about one-half of children are being tested in these cities. The findings show that the public health care system in these cities is poorly prepared to screen for sickle cell disease in newborns and that there was a lack of health care personnel to follow up on newly diagnosed sickle cell patients or carriers of the sickle cell trait.     

Neonatal screening for hemoglobinopathies in Rio de Janeiro, Brazil]

OBJECTIVE: To describe the main results obtained in the first 15 months of neonatal screening for sickle cell disease in the state of Rio de Janeiro, Brazil, from August 2000 to November 2001. METHODS: Starting in August 2000, blood samples began to be collected for sickle cell disease screening from all newborns receiving care in primary health care clinics in the state of Rio de Janeiro. The samples were submitted to high-resolution liquid chromatography. If the resulting chromatogram was compatible with sickle cell disease, the child and the parents were referred for diagnostic confirmation and treatment. RESULTS: Between August 2000 and November 2001, 99 260 newborns were screened. There was one case of homozygous Hb C. On average, one of every 27 newborns who were screened presented sickle cell trait (Hb AS). Sickle cell disease was observed in 83 cases, or one new case in each 1 196 births. The 83 consisted of: 62 Hb S, 18 Hb SC, and 3 Hb SD. One child did not appear for diagnostic confirmation. The 82 children who were followed up by the program presented 15 intercurrent illnesses (upper respiratory infections, fever, splenic sequestration crises, hand-foot syndrome, and vascular occlusion), resulting in seven hospital admissions. Blood transfusions were necessary with 15 children, but none developed alloimmunization. All the other babies were doing well with the use of prophylactic penicillin. CONCLUSIONS: Our data show the importance of early diagnosis for sickle cell disease, so as to prevent the frequent infectious complications faced by these patients.     

Dépistage néonatal ciblé de la drépanocytose : limites du test de falciformation (test d’Emmel) dans le bilan prénatal en zone ouest africaine

Background

Newborn screening for sickle cell anemia is necessary in Africa where the disease is more frequent. Hemoglobin electrophoresis is used for screening, but is limited by a high cost and difficult access. Sickling test (Emmel test), which is more affordable and technically more accessible, is often requested for prenatal assessment of pregnant women in West African areas to reserve screening for newborns from mothers in whom the positive sickling test attests the presence of hemoglobin S. This study aims to evaluate the number of undetected sickle cell anemia newborns by a screening policy targeting only newborns from mothers in whom a sickling test would have been positive.

Effective screening programmes for cervical cancer in low- and middle-income developing countries.

Cervical cancer is an important public health problem among adult women in developing countries in South and Central America, sub-Saharan Africa, and south and south-east Asia. Frequently repeated cytology screening programmes--either organized or opportunistic--have led to a large decline in cervical cancer incidence and mortality in developed countries. In contrast, cervical cancer remains largely uncontrolled in high-risk developing countries because of ineffective or no screening. This article briefly reviews the experience from existing screening and research initiatives in developing countries. Substantial costs are involved in providing the infrastructure, manpower, consumables, follow-up and surveillance for both organized and opportunistic screening programmes for cervical cancer. Owing to their limited health care resources, developing countries cannot afford the models of frequently repeated screening of women over a wide age range that are used in developed countries. Many low-income developing countries, including most in sub-Saharan Africa, have neither the resources nor the capacity for their health services to organize and sustain any kind of screening programme. Middle-income developing countries, which currently provide inefficient screening, should reorganize their programmes in the light of experiences from other countries and lessons from their past failures. Middle-income countries intending to organize a new screening programme should start first in a limited geographical area, before considering any expansion. It is also more realistic and effective to target the screening on high-risk women once or twice in their lifetime using a highly sensitive test, with an emphasis on high coverage (>80%) of the targeted population. Efforts to organize an effective screening programme in these developing countries will have to find adequate financial resources, develop the infrastructure, train the needed manpower, and elaborate surveillance mechanisms for screening, investigating, treating, and following up the targeted women. The findings from the large body of research on various screening approaches carried out in developing countries and from the available managerial guidelines should be taken into account when reorganizing existing programmes and when considering new screening initiatives.     

A scoping review of interventions to address intimate partner violence in sub-Saharan African healthcare

ABSTRACT

Intimate partner violence (IPV) is a widespread global health problem, with negative effects on women’s health and HIV transmission and treatment. There is little evidence on how to address IPV effectively in lower-resourced healthcare settings, particularly those that are impacted by significant HIV epidemics. We conducted a scoping review to provide an overview of the literature on IPV screening and intervention programmes in sub-Saharan African healthcare. The included studies used mainly qualitative methods. We identified five main themes: the acceptability to female clients, the importance of confidentiality, provider concerns, barriers due to gender norms, and need for referrals and comprehensive services. Research in this field is limited, and a robust research agenda is needed to provide effective IPV interventions for women seeking healthcare in sub-Saharan Africa.     

Training of public health workforce at the National School of Public Health: meeting Africa's needs

PROBLEM: The inadequate number of trained public health personnel in Africa remains a challenge. In sub-Saharan Africa, the estimated workforce of public health practitioners is 1.3% of the world's health workforce addressing 25% of the world's burden of disease. APPROACH: To address this gap, the National School of Public Health at the then Medical University of Southern Africa created an innovative approach using distance learning components to deliver its public health programmes. Compulsory classroom teaching is limited to four two-week blocks. RELEVABT CHANGES: Combining mainly online components with traditional classroom curricula reduced limitations caused by geographical distances. At the same time, the curriculum was structured to contextualize continental health issues in both course work and research specific to students' needs. LESSONS LEARNED: The approach used by the National School of Public Health allows for a steady increase in the number of public health personnel in Africa. Because of the flexible e-learning components and African-specific research projects, graduates from 16 African countries could avail of this programme. An evaluation showed that such programmes need to constantly motivate participants to reduce student dropout rates and computer literacy needs to be a pre-requisite for entry into the programme. Short certificate courses in relevant public health areas would be beneficial in the African context. This programme could be replicated in other regions of the continent.     

The effects of neonatal screening for sickle cell disorders on lifetime treatment costs and early deaths avoided: a modelling approach

BACKGROUND: The aim of the study was to calculate the cost to the UK National Health Service of providing treatment services for patients with sickle cell disorders. The rates of differential morbidity and mortality, in the first 10 years of life, between screen-detected early diagnosed and clinically presenting late diagnosed cohorts of sickle cell disorder patients are also estimated. METHOD: A cost model was developed, based on predictions of survival and the incidence of sickle cell disorder-related events. Direct data from the NHS are lacking, so data were incorporated from disparate sources. Patients with sickle cell disorders were divided into two categories: those with sickle cell anaemia and those with sickle HbC disease. RESULTS: Differentiating between sickle cell anaemia and sickle HbC disorder patients, the results show that the undiscounted (discounted at 6 per cent) lifetime treatment costs range from pound sterling 92323 (pound sterling 24917) to pound sterling 185614 (pound sterling 53861). The number of early deaths avoided per 100 births, as a result of early diagnosis through screening, ranges from 0.57 to 1.25. CONCLUSIONS: The resulting estimates may act as a guide to those involved in the planning of health care provision with regard to the resources required to treat sickle cell disorder patients. Such information may also be incorporated into the evaluation of both antenatal and neonatal screening programmes for sickle cell disorders.     

Preventing morbidity and mortality from sickle cell disease. A public health perspective.

CONTEXT: Sickle cell disease is a group of conditions characterized by production of abnormal hemoglobin, with clinical manifestations that vary by genotype and age. OBJECTIVE: To discuss current public health issues associated with sickle cell disease, and approaches to preventing complications from these conditions in the United States. DESIGN: Literature review. RESULTS: Most clinical interventions for people with sickle cell disease discussed in the medical literature can be classified as tertiary prevention: for example, therapy to ameliorate anemia, reduce the frequency of pain crises, or prevent stroke recurrences. A form of secondary prevention, newborn screening, has emerged as an important public health approach to identifying affected children before they develop complications. Newborn screening is the starting point for simple public health strategies such as parental education, immunization, and penicillin prophylaxis. Identification of affected families by newborn or community screening programs has also been an entry point for genetic counseling, although utilization of prenatal testing has varied by factors such as geographic location. Public health agencies have had significant involvement with funding, policy making, and formulation of laboratory and clinical guidelines for sickle cell disease. Since the introduction of penicillin prophylaxis policies, newborn screening, new immunizations, and comprehensive medical care centers, the survival of young children with sickle cell disease has improved. CONCLUSIONS: Although the efforts of preventive medicine providers in public health programs are not solely responsible for the improved survival of children with sickle cell disease, such programs remain an important component in preventing sickle cell complications.     

Sickle cell trait, malaria and anaemia in pregnant Zambian women

In a sample of 424 pregnant Zambian women a series of tests was carried out: sickle cell test, haemoglobin estimation and screening of a thick blood smear for malarial parasites. More anaemia was found in the primigravidae than in the multigravidae. The haemoglobin level was found to be lower with primigravidity and, independently of this gravidity effect, also with malaria. Taking into account the higher malaria frequency in primigravidae, this group must be considered as a high risk group for development of anaemia. There was no significant interaction between sickle cell trait, anaemia and malaria. In addition to the tests during pregnancy, the placentae and umbilical cords of 155 women were screened for malaria as were the mothers just before delivery. More malaria parasites were detected in the placentae of the primiparous than in those of multiparous women. Peripheral parasitaemia was strikingly less prevalent than infestation of the placenta.     

基于微信公众平台的新生儿保健平台的建立和应用

目的建立新生儿保健微信公众平台,评估该微信平台在新生儿保健和健康中的作用。方法将进行孕检的孕早期妇女是否订阅新生儿保健微信公众平台分为订阅组与未订阅组,利用平台对订阅组宣教新生儿保健知识,对两组新生儿进行观察,评估。结果订阅组较未订阅组在丙苯酮酸症筛查、甲状腺功能低下症筛查、听力筛查、新生儿行为神经测定(neonatal behavior neurological assessment,NBNA)接受情况中差异有统计学意义;订阅组新生儿出生后28d体重增长情况、纯母乳喂养情况,优于未订阅组;订阅组在新生儿护理知识掌握情况优于未订阅组;部分疾病患病率订阅组低于未订阅组。结论建立新生儿微信公共平台,对新生儿保健知识进行传播,可达到促进新生儿的健康发育,预防疾病的目的。     

Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2 (4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.     

Tackling Africa's chronic disease burden: from the local to the global

Africa faces a double burden of infectious and chronic diseases. While infectious diseases still account for at least 69% of deaths on the continent, age specific mortality rates from chronic diseases as a whole are actually higher in sub Saharan Africa than in virtually all other regions of the world, in both men and women. Over the next ten years the continent is projected to experience the largest increase in death rates from cardiovascular disease, cancer, respiratory disease and diabetes. African health systems are weak and national investments in healthcare training and service delivery continue to prioritise infectious and parasitic diseases. There is a strong consensus that Africa faces significant challenges in chronic disease research, practice and policy. This editorial reviews eight original papers submitted to a Globalization and Health special issue themed: "Africa's chronic disease burden: local and global perspectives". The papers offer new empirical evidence and comprehensive reviews on diabetes in Tanzania, sickle cell disease in Nigeria, chronic mental illness in rural Ghana, HIV/AIDS care-giving among children in Kenya and chronic disease interventions in Ghana and Cameroon. Regional and international reviews are offered on cardiovascular risk in Africa, comorbidity between infectious and chronic diseases and cardiovascular disease, diabetes and established risk factors among populations of sub-Saharan African descent in Europe. We discuss insights from these papers within the contexts of medical, psychological, community and policy dimensions of chronic disease. There is an urgent need for primary and secondary interventions and for African health policymakers and governments to prioritise the development and implementation of chronic disease policies. Two gaps need critical attention. The first gap concerns the need for multidisciplinary models of research to properly inform the design of interventions. The second gap concerns understanding the processes and political economies of policy making in sub Saharan Africa. The economic impact of chronic diseases for families, health systems and governments and the relationships between national policy making and international economic and political pressures have a huge impact on the risk of chronic diseases and the ability of countries to respond to them.     

The interaction between sickle haemoglobin and the malarial parasite Plasmodium falciparum

The mechanism whereby heterozygous carriers of the sickle cell gene are protected against fatal malarial infections due to Plasmodium falciparum has been examined in a short term in vitro cultivation system. The results have show that both parasite invasion of red cells and parasite growth within red cells containing sickle haemoglobin (Hb-S) is restricted, but only under conditions of low (5%) oxygen tensions. To bring this about, the cells containing Hb-S need not sickle. Furthermore the growth retardation observed in the presence of Hb-S was also found to apply to the mature forms of the parasite. These findings offer a plausible mechanism for the protection of sickle heterozygotes against falciparum malaria.     

Newborn hearing screening programme outcomes in a research hospital from Turkey

Background Universal neonatal hearing screening programmes are encouraged to define and manage hearing loss in early ages of life. The aim of this study is to introduce our 14‐month three‐step hearing screening programme results with 16 975 births in Turkey. Methods In healthy neonates, Transient Evoked Otoacoustic Emission (TEOAE) is served as the initial screening in the first day of life. In newborns that did not meet pass criteria TEOAE was repeated in 10‐day period. If the second test was ‘refer’ again, the screening was completed with auditory brainstem response (ABR). Additionally, ABR was performed for the neonates with neonatal intensive care unit (NICU) requirement and at high audiologic risk. Neonates who failed the screening test with ABR were referred for further evaluation. Results A total of 15 323 newborns and 1652 NICU infants were tested. The screening coverage was 94.4%; 14 521 neonates (94.7%) passed the first screening step (TEOAE), while 802 (5.2%) neonate failed. In total, 322 (40.1%) of the neonates out of 802 was subjected to the second TEOAE after 10 days have failed and ABR was applied. From the neonates participated the third step (ABR) totalling 1974, 43 (2.17%) of neonates obtained a ‘refer’ response. Out of these 43 neonates, 17 neonates were (39.5%) NICU infants. From the 43 neonates, 38 cases (88.4%) were found to have hearing impairment. The false‐positive rate for first step screening with TEOAE was 4.9%; second step with TEOAE was 1.85% and for ABR was 0.25%. Conclusions It is apparent that three step national hearing screening programme which has been applied for the latest years in Turkey is an accurate and non‐invasive method to determine the congenital hearing loss. In the future, screening programmes could be rearranged with two steps as initial with TEOAE and retest with ABR and the coverage of the screening programme can be extended.     

New initiatives against Africa's worms

Since 1999, the funding available for the control of diseases of poverty (neglected diseases) has increased mainly due to leverage resulting from donations by the Bill and Melinda Gates Foundation and loans from the World Bank. Many countries have embarked on control programmes on a national scale due to drug donations by pharmaceutical companies through vertical programmes. The Schistosomiasis Control Initiative has expanded its operations to cover six countries in sub-Saharan Africa, but overlap of treatments between different vertical programmes is now a reality, and so care is needed to ensure that too many different drugs are not given together. Dialogue between programme managers has increased, and integration of some programmes may offer chances of synergy.     

Current sickle cell screening program for newborns in New York City, 1979-1980.

The newborn screening program mandated by the New York State Public Health Law requires that every baby born in the state be tested for eight conditions including sickle cell anemia. Although sickle cell screening of newborns has been in operation since 1975, the follow-up program for case retrieval to obtain repeat blood samples for definitive diagnosis and referral of diagnosed patients for ongoing medical care was established only in 1979. Of the 106,565 blood samples tested in New York City Newborn Screening Laboratory, March 1, 1979 to February 29, 1980, 141 infants were identified on repeat blood testing as having various forms of sickle cell disease (SS, SC and S beta-Thalassemia) and were referred for ongoing medical care. Data received on 131 patients from follow-up clinics revealed that the disease diagnosis made by the Newborn Screening Laboratory was confirmed in all patients. There were no deaths reported among the study patients (131 infants) followed for the period of 8-20 months despite the life-threatening complications among eight patients. Binomial distribution of the data on Black infants according to the Hardy-Weinberg equation showed reasonable agreement between the observed and computed incidence of various forms of sickle cell disease.     

Anaemia in pregnant Ghanaian women: importance of malaria, iron deficiency, and haemoglobinopathies

In sub-Saharan Africa, anaemia in pregnancy results from multiple causes including malaria, iron deficiency and haemoglobinopathies. In a cross-sectional study among 530 pregnant women in Ghana in November-December 1998, red blood cell indices were analysed with respect to malaria, serum concentrations of ferritin and C-reactive protein (CRP), and the haemoglobin and alpha-globin genotypes. Anaemia (haemoglobin [Hb] < 11 g/dL) was found in 54% of the women; 63% harboured malaria parasites at predominantly low numbers. Ferritin levels were considerably influenced by malaria and inflammatory processes (CRP > 0.6 mg/dL). Depending on the definition applied, the prevalence of iron deficiency ranged between 5% and 46%. The HbAS trait was observed in 14%, HbAC and elevated HbF in 7% each, and sickle cell disease in 1%. Heterozygous beta-thalassaemia was present in 1% of the women and alpha(+)-thalassaemia in 33% (29% heterozygous, 4% homozygous). Women with HbAS had higher malaria parasite densities than those with HbAA. In individuals with highly elevated HbF (> 10%), parasitaemia occurred in 27% only. Low gravidity, second trimester of pregnancy, malaria, raised CRP levels, and homozygous alpha(+)-thalassaemia were independent risk factors for anaemia in multivariate analysis. alpha(+)-Thalassaemia, however, was associated with a lesser degree of malarial anaemia when compared to non-thalassaemic women. Iron deficiency appears not to be a major health problem in this population. Haemoglobinopathies are common but, except for homozygous alpha(+)-thalassaemia, do not substantially contribute to anaemia in pregnancy. alpha(+)-Thalassaemia ameliorates malarial anaemia in pregnant women.     

Diabetes Mellitus

Because of the extensive burden that diabetes mellitus imposes on individuals and healthcare systems, this disease state is frequently on the priority lists of managed-care organisations for improving quality of care while controlling costs. This article explains diabetes disease management concepts and interventions aimed at improving clinical outcomes illustrated with details of the Lovelace Health Systems Diabetes Episodes of Care® programme.The effectiveness of diabetes disease management programmes can best be evaluated by the clinical outcome of haemoglobin A_1c measures. Process measurements include diabetes education access, annual eye examinations and documentation of annual clinical evaluations of feet. Short term cost reductions are frequently unrealistic expectations of diabetes disease management programmes because of the complex, chronic nature of the disease. Coordination of previously fragmented services, eventual reduction of long term complications and meeting regulatory standards are potential achievements of these programmes.     

Embracing a family-centred response to the HIV/AIDS epidemic for the elimination of pediatric AIDS

Abstract

There are 2.1 million children under the age of 15 living with HIV/AIDS, and 290,000 children died of AIDS in 2007. Despite recent increases in the number of adults on antiretroviral therapy (ART), the number of children receiving treatment remains inappropriately small, and prevention of mother to child transmission (PMTCT) efforts have been grossly inadequate. In sub-Saharan Africa, 14% of those in need of treatment are children, but only 6% of those are receiving treatment. Globally, only 23% of HIV-positive pregnant women have access to PMTCT programmes, which led to 420,000 new pediatric infections last year. Countries with comprehensive, integrated family-centred care programmes are better equipped to prevent and treat pediatric HIV/AIDS. True family-centred care offers prompt maternal and pediatric HIV diagnosis, antiretroviral prophylaxis, cotrimoxazole prophylaxis, and long-term ART for the entire family, as appropriate. Simple child health interventions, prompt treatment of opportunistic infections, nutritional supplementation and infant replacement feeding, as well as malaria treatment and prevention have been proven to synergistically improve pediatric HIV care and increase service uptake. To eliminate pediatric HIV/AIDS, national governments must embrace family-centred care, implement pediatric-friendly infrastructure, and train healthcare workers to treat children.