National Audit of Criteria For Pre-Operative Sickle Cell Screening in Children.

Aim We set out to identify the current practice in the anaesthesiology departments of Ireland's public hospitals that deliver paediatric anaesthesia with regard to pre-operative screening for sickle cell disease (SCD) and Sickle cell trait (SCT). Methods The Departments of Anaesthesiology at 14 public HSE-funded hospitals that deliver paediatric anaesthesia were contacted over a three month period in 2020. Any existing policies regarding pre-operative screening of paediatric patients for Sickle cell disease or trait were sought. Comparisons were made between any screening policies in place. Results A response was received from 11 of the 14 hospitals. Three out of 11 of the Anaesthesiology Departments have formal policies in place. The ethnicities identified for pre-operative screening varied across these three hospitals. Conclusion Despite a significant increase in the number of people of African, middle Eastern & Indian descent living in Ireland in recent years, no neonatal screening programme for Sickle cell exists here, and no national policy exists with criteria to guide the practice of pre-operative screening of patients for SCD/SCT (trait). Our survey highlights a lack of standardisation in the approach to pre-operative sickle cell screening of children across Ireland's public hospital system. In view of the increasing multiculturalism in Ireland we recommend a national review of the merits of the introduction of developing a targeted national guideline for pre-operative screening for sickle cell in at-risk children.

Sickle cell disease prevention: How prepared are the senior secondary school students in Surulere Local Government Area, Lagos, Nigeria?

BACKGROUND:  Sickle cell disease (SCD), a common hereditary disease, can be prevented by preparing young people ahead of the conception of an affected foetus. AIM:  To assess the knowledge and attitude regarding SCD amongst senior secondary school students in Surulere Local Government Area (LGA), Lagos, Nigeria. SETTING:  Senior secondary schools in Surulere LGA. METHODS:  This was a descriptive cross-sectional study amongst 300 senior secondary school students. Data were collected using a self-administered questionnaire and analysed using Stata16. The Chi-square and Fisher's exact tests were used to determine the association between categorical variables. The level of significance was predetermined at p  0.05. RESULTS:  The mean age of the respondents was 15.2 (±1.3) years, with a male-to-female ratio of about 1:2. The majority (90.0%) of the respondents were aware of SCD, 63.0% had good knowledge, although less than half of them (46.3%) knew SCD to be a blood disorder, whilst about two-thirds (53.1%) knew that it was an inherited condition. About one fifth (24.4%) of them knew about prevention by genetic counselling. The majority (97.0%) of them had a positive attitude towards SCD. Over two-thirds (72.6%) were aware of their genotype. The prevalence of SCD was 2.0%, whilst 18.9% of them were carriers of the sickle cell trait. Knowing their SCD status but not necessarily their genotype was significantly associated with their attitude towards the disease (p = 0.014). CONCLUSION:  The prevention of SCD was not known to the majority, and better attitudes were more likely when the SCD status was known. Therefore, routine screening and counselling could potentially aid SCD control.

Recambio de Hematíes en gestante con Anemia de Células Falciformes: reporte de un caso en el Hospital Regional de Talca / Red blood cell exchange in pregnant women with Sickle Cell Anemia: report of a case in the Regional Hospital of Talca

Sickle cell anemia or sickle cell disease is an autosomal recessive disease, caused by a mutation in the hemoglobin gene, where glutamic acid is substituted for valine at position 6 of the beta chain of hemoglobin, resulting in hemoglobin S The diagnosis is made with electrophoresis. The clinical manifestations are varied, the most frequent being the vaso-occlusive crisis, which can increase in pregnancy, during which sickle cell disease also increases the risk of maternal-fetal complications, caused by pre-eclampsia infections, intrauterine growth restriction, and premature delivery. and miscarriage. The usual treatment for the management of seizures is hydroxyurea, a drug that is teratogenic, so its use is contraindicated during pregnancy. Other treatment alternatives are red blood cell transfusion and red blood cell exchange. Next, the first case of red blood cell exchange or exchange transfusion in a pregnant patient with sickle cell anemia at the Hospital Regional de Talca is presented.

Sickle cell disease children's gut colonization by extended-spectrum ß-lactamase (ESBL)-producing Enterobacterales: an antibiotic prophylaxis effect?

Introduction. Sickle cell disease (SCD) children have a high susceptibility to pneumococcal infection. For this reason, they are routinely immunized with pneumococcal vaccines and use antibiotic prophylaxis (AP).Hypothesis/Gap Statement. Yet, little is known about SCD children's gut microbiota. If antibiotic-resistant Enterobacterales may colonize people on AP, we hypothesized that SCD children on AP are colonized by resistant enterobacteria species.Objective. To evaluate the effect of continuous AP on Enterobacterales gut colonization from children with SCD.Methodology. We analysed 30 faecal swabs from SCD children on AP and 21 swabs from children without the same condition. Enterobacterales was isolated on MacConkey agar plates and identified by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) (bioMérieux, Marcy l'Etoile, France). We performed the antibiogram by Vitek 2 system (bioMérieux, Marcy l'Etoile, France), and the resistance genes were identified by multiplex PCR.Results. We found four different species with resistance to one or more different antibiotic types in the AP-SCD children's group: Escherichia coli, Klebsiella pneumoniae, Citrobacter freundii, and Citrobacter farmeri. Colonization by resistant E. coli was associated with AP (prevalence ratio 2.69, 95 % confidence interval [CI], 1.98-3.67, P<0.001). Strains producing extended-spectrum ß-lactamases (ESBL) were identified only in SCD children, E. coli, 4/30 (13 %), and K. pneumoniae, 2/30 (7 %). The ESBL-producing Enterobacterales were associated with penicillin G benzathine use (95 % CI, 22.91-86.71, P<0.001). CTX-M-1 was the most prevalent among ESBL-producers (3/6, 50 %), followed by CTX-M-9 (2/6, 33 %), and CTX-M-2 (1/6, 17 %).Conclusion. Resistant enterobacteria colonize SCD children on AP, and this therapy raises the chance of ESBL-producing Enterobacterales colonization. Future studies should focus on prophylactic vaccines as exclusive therapy against pneumococcal infections.

Sickle cell disease in sub-Saharan Africa: transferable strategies for prevention and care.

Sickle cell disease can be life-threatening or chronically debilitating for both children and adults. Worldwide, more than 300 000 children are born with sickle cell disease every year, over 75% of whom in sub-Saharan Africa. Increased awareness and early interventions, such as neonate screening and comprehensive care, have led to considerable reductions in mortality in children younger than 5 years in high-income countries. However, sickle cell disease prevention and care have largely been neglected in Africa. Without intervention, 50-90% of affected children in many sub-Saharan African countries die before their fifth birthday. Fortunately, increasing initiatives in sub-Saharan Africa are piloting interventions such as neonate screening and comprehensive care, and as mortality declines, quality of life and increased life expectancy become major targets for interventions. Hydroxyurea (hydroxycarbamide) and haematopoietic stem-cell transplantation have already been shown to be effective therapies in high-income countries, but are either not widely accessible or too expensive for most African populations. These challenges are being alleviated by numerous networks evolving through international collaborations that are positively changing the outlook of sickle cell disease management in sub-Saharan Africa. In this Series paper, we describe the epidemiology, pathophysiology, clinicobiological profile, and psychosocial effects of sickle cell disease in sub-Saharan Africa. We highlight transferable strategies already used for the successful management of the condition and key strategies and recommendations for affordable and comprehensive care on the continent. TRANSLATION: For the French translation of the abstract see Supplementary Materials section.

Knowledge, attitude and control practices of sickle cell diseases among senior secondary students in Osun State, Nigeria.

INTRODUCTION: sickle cell disease is one of the greatest public health problems of this age. This study was conducted to assess the knowledge, attitude and control practices on sickle cell disease (SCD) among selected secondary school students in Osun State, Nigeria. METHODS: a descriptive cross-sectional study involved 420 secondary school students within Osogbo Metropolis selected by a multistage stratified sampling technique, using self-administered structured questionnaire. Data were collected using pre-tested self-administered semi structured questionnaire. Data were analyzed using SPSS version 20. RESULTS: a total of 420 students were interviewed, modal age range 15-20 years. There were more females (55%) than males (45%). Majority of them were christians (57.1%). A larger percentage of the respondents were aware of SCD (58.5%). However, comprehensive knowledge as regards the various genotypes related to SCD, tests to be done for genotype screening among the respondents is low. One third of the respondents had positive attitude towards SCD (65%) and nearly one half (48%) of the respondents had bad control practices. CONCLUSION: findings in this study shows a high level of general awareness on SCD, even though comprehensive knowledge as regards the various genotype related to SCD, tests to be done for genotype screening among others is low. The need to improve on their attitude and practice towards the disease is highly recommended because having a good knowledge is not as important as applying the knowledge in a way to stop the spread of the disease.

Beyond the screening: The need for health systems intervention for prevention and management of sickle cell disease among tribal population of India.

Globally, sickle cell disease (SCD) is one of the major public health problems. In India, it is more prevalent in tribal communities. Tribal communities are socio-economically disadvantaged and constitute 8.6% of India's population. The health and health care seeking of these communities is very poor. Though efficacious interventions are available to manage SCD, they are not reaching these people and no comprehensive programme is in place. The objective of this analysis is to demonstrate the burden of SCD among the tribes in two Indian states of Andhra Pradesh and Telangana, as a case and to highlight the need for public health intervention and health systems strengthening in the country to prevent and manage SCD. One in 10 persons of tribal population of these states carries Hb S gene. A substantial number of children are born every year with the condition. Mostly, the research is limited to screening. Hence, a programme with early detection and an appropriate referral system should be developed. The primary health care system should be strengthened to screen and manage SCD persons with good disease management practices and appropriate community mobilisation activities. The programme should partner with traditional healers and community leaders. People should be encouraged to seek treatment; and counselling for prevention. The study warrants human-centric approaches during the interventions to address the possible threat of fear of being stigmatised. Thus, the transition of evidence-based interventions into the programme and practice can improve the lives of people with SCD, particularly the tribal population.

Quail (Coturnix japonica) egg attenuated 2-butoxyethanol-induced enzymatic dysregulation, disseminated thrombosis and hemolytic impairment in female wistar rats.

Influence of quail egg on pathologies has increased research interests and series of investigations are currently being done on its influence against these pathologies. The influence of quail egg against 2-butoxyethanol induced hemolysis and disseminated thrombosis was investigated to determine the enzymatic regulations that ensue in the amelioration of deleterious hemolytic and disseminated thrombosis displayed in female Wistar rats. Quail egg was separated into three (3) components (extracts)-quail egg yolk water soluble (QYWS) and fat soluble (QYFS), and albumen extract (QA) and the inorganic and organic compositions were characterized. Depranocytotic assaults was achieved by 250 mg/kg of 2-Butoxyethanol administered for 4 days, the clinical observation revealed a dark purple-red discoloration on the distal tails of the rats and therapeutic applications followed with 1000 mg/kg BWT of QYWS, QYFS and QA, and 15 mg/kg BWT of hydroxyurea. Morphological evaluation, haematological estimations and biochemical evaluations of the influence on the activities of sphingosine kinase-1, RNase, red cell carbonic anhydrase, lactate dehydrogenase, glutathione peroxidase and caspase-3, vis a vis the concentrations of sphingosine-1 phosphate, selenium and zinc (plasma and urine). In vitro anti-inflammatory influence of quail egg components were investigated against hemolysis and key enzymes of inflammation-cycloxygenase, lipoxygenase and ß-glucuronidase. The in vitro anti-inflammatory effects of QYWS, QYFS and QA were concentration dependent from 200 to 800 µg/ml against hemolysis and the key enzymes of inflammation. The characterization of inorganic and organic bioactive composition of the yolk and albumen revealed the presence of folic acid, cobalamin, pyridine, riboflavin, ascorbic acid as well as vitamins D and E, selenium, zinc, iron and calcium. These had reflected in the attenuation of the induced hemolytic and disseminated thrombosis by regulations of enzymes linked to the infarction, apoptosis and oxidative stress characterized in sickle cell index.

Role of prophylactic and therapeutic red blood cell exchange in pregnancy with sickle cell disease: Maternal and perinatal outcomes.

BACKGROUND AND AIM: The incidence of fetomaternal complications during pregnancy is high for women with sickle cell disease (SCD), which is the most common hematologic genetic disorder worldwide. Prophylactic red blood cell exchange (pRBCX) has been shown to be efficient, safe, and feasible for preventing complications. The aim of this study was to observe maternal, perinatal, and neonatal outcomes of pregnancies in which pRBCX was. METHOD: This was a single-center, retrospective, cross-sectional study, which recruited 46 consecutive adult pregnant women with SCD between January 2012 and June 2019. Obstetric features, SCD-related complications, and fetomaternal outcomes were compared between the 27 patients who received prophylactic exchange and the 19 who did not (therapeutic exchange was performed in 7 and was not performed in 12 cases). RESULTS: Painful crises, preeclampsia, and preterm birth rates were significantly higher in the group that did not receive prophylactic exchange (control group; P = .001, P = .024, and P = .027, respectively). There was one maternal mortality in the control group (P = .41). Incidence of adverse fetal or maternal complications was significantly higher in the control group (P = .044 and P = .007, respectively). CONCLUSIONS: Our center's experience over a 7.5-year period, as described above, demonstrates that pRBCX in SCD affects the course of pregnancy positively by ameliorating negative fetomaternal outcomes.

Internalização do cuidado: um estudo qualitativo com escolares que convivem com a doença falciforme / Internalizacion del cuidado: un estudio cualitativo com niños que viven con enfermedad de células falciformes / Internalization of care: a qualitative study with schoolchildren living with sickle cell disease

RESUMO Objetivo analisar a internalização do cuidado com o corpo pelo escolar com a doença falciforme com base na teoria do desenvolvimento de Vigotski e no conceito de cuidado de Collière. Método Estudo qualitativo com 15 escolares que convivem com a doença falciforme, acompanhados em ambulatório na cidade de Vitoria - ES. A técnica utilizada foi a entrevista individual e a análise temática. A hidratação corporal, o brincar, a prevenção e manejo da crise falcêmica, a alimentação e as roupas foram as unidades temáticas que emergiram. Resultados Os participantes referiram ingerir variados tipos de líquidos. As brincadeiras foram predominantemente ativas. Os medicamentos foram de reparação e manutenção da saúde. Não se evidenciou consumo de alimentos saudáveis. Observou-se a utilização de roupas adequadas ao frio. A dor foi um signo da internalização do cuidado e do conhecimento para brincadeiras. A diminuição de líquidos e roupas inadequadas desencadearam a crise falcêmica. Considerações Finais Evidenciaram-se a internalização do conhecimento e dos cuidados mediados pela dor e o despreparo dos professores pela falta de conhecimento. Implicações para a prática este estudo poderá subsidiar a melhor articulação entre profissional de saúde, criança e escola.

RESUMEN Objetivo analizar la internalización de la atención por parte del escolar con la enfermedad de células falciformes basado en la teoría del desarrollo de Vigotski y el concepto de atención de Collière. Método Estudio cualitativo con 15 escolares que viven con la enfermedad de células falciformes, monitoreados en una clínica ambulatoria en la ciudad de Vitoria - ES. La técnica fue la entrevista individual y el análisis temático. La hidratación corporal, el juego, la prevención y el manejo de la crisis falcémica, la alimentación y la ropa fueron las unidades temáticas que emergieron. Resultados Los participantes informaron de la ingestión de varios tipos de líquidos. Los juegos fueron predominantemente activos. Los medicamentos fueron de reparación y mantenimiento de la salud. No se ha demostrado el consumo de alimentos saludables. Se observó el uso de ropa adecuada para el frío. El dolor fue un signo de la internalización de la atención y el conocimiento para los juegos. La disminución de líquidos y la ropa inadecuada desencadenaron la crisis falcémica. Consideraciones finales Se señalaron la internalización del conocimiento y la atención mediados por el dolor y la falta de preparación de los maestros debido a la falta de conocimiento. Implicaciones para la práctica este estudio podrá subsidiar la mejor articulación entre los profesionales de la salud, los niños y la escuela.

ABSTRACT Objective to analyze the internalization of body care by the schoolchildren with sickle cell disease based on Vigotski's development theory and Collière's concept of care. Method Qualitative study with 15 schoolchildren living with sickle cell disease, followed in an outpatient clinic in the city of Vitoria - ES. The technique was the individual interview and thematic analysis. Body hydration, playing, prevention and management of the sickle cell crisis, food and clothing were the thematic units that emerged. Results Participants reported ingesting various types of liquids. The games were predominantly active. The medications were repair and maintenance of health. It was observed no consumption of healthy foods. The use of clothes suitable for the cold was evidenced. Pain was a sign of the internalization of care and knowledge for games. The decrease in liquids and inadequate clothing triggered the sickle cell crisis. Final Considerations The internalization of knowledge and care mediated by pain and the unpreparedness of teachers due to lack of knowledge were highlighted. Implications for practice this study can support the best articulation between health professionals, children and school.

Síntese de evidências para políticas de saúde: prevenindo as complicações da doença falciforme / Evidence health policy brief: preventing the complications of sickle cell disease

Essa síntese teve como objetivo levantar opções para prevenção de complicações da doença falciforme, e informar sobre avanços na implementação da política no país. Seguem as opções descritas na síntese que já fazem parte das recomendações do Ministério da Saúde: Promover a antibioticoterapia profilática e a vacinação anti-pneumocócica; Promover o uso de hidroxiureia para prevenção e tratamento de complicações da doença falciforme; Promover o uso de ultrassonografia Doppler Transcraniano (DTC) e transfusão sanguínea para a prevenção primária de acidente vascular cerebral (AVC); Promover a educação em saúde para as pessoas com doença falciforme e seus cuidadores sobre medidas para reduzir as complicações

O familiar da criança com doença falciforme: saberes e práticas / Relatives of children bearing sickle cell anemia: knowledge and practice / El familiar del niño con enfermedad falciforme: saberes y prácticas

Objetivo: Descrever a tipologia do cuidado realizado pelo familiar à criança com doença falciforme segundo Colliére. Método: Estudo qualitativo, descritivo, desenvolvido com familiares de crianças com doença falciforme, em um hospital geral de Vitória por meio da entrevista semiestruturada. Os dados foram interpretados à luz do Referencial Teórico de Collière e submetidos à Análise Temática. Resultados: a família se deparada com profissionais despreparados no momento da descoberta da doença. Quanto aos cuidados, houve predomínio dos cuidados de manutenção relacionados ao momento do diagnostico, brincadeiras, medicação diária, hidratação corporal, alimentação, eliminação e roupas. Já os reparadores ficaram restritos a situações emergenciais. Conclusão: é necessário capacitar os profissionais que atendem as crianças com doença falciforme para melhor satisfação das suas necessidades e de sua família

Objective: This work aims to describe the type of care provided by relatives for children with sickle cell anemia according to Collière. Methods: It is descriptive study with a qualitative approach, which was carried out with relatives of children bearing sickle cell anemia in a general hospital in Vitória city, Espírito Santo State, Brazil, by using semi-structured interviews. Data were interpreted in light of the Collière's Theoretical Reference and submitted to Thematic Analysis. Results: Families had to deal with the health care professionals' lack of skill needed to convey the diagnostic. Also, there was a predominance of the maintenance care related to the time of diagnosis, playing, daily medication, body hydration, diet, elimination, and clothing. Nonetheless, repair care was restricted to emergency situations. Conclusion: It is necessary to train the professionals who care for children with sickle cell anemia to better meet their needs and those of their families

Objetivo: Describir la tipología del cuidado realizado por el familiar al niño con enfermedad falciforme según Colliére. Método: Estudio cualitativo, descriptivo, desarrollado con familiares de niños con enfermedad falciforme, en un hospital general de Vitória por medio de la entrevista semiestructurada. Los datos fueron interpretados a la luz del Referencial Teórico de Collière y sometidos al Análisis Temático. Resultados: la familia se deparó con profesionales despreparados en el momento del descubrimiento de la enfermedad. En cuanto a los cuidados, hubo predominio de los cuidados de mantenimiento relacionados al momento del diagnóstico, bromas, medicación diaria, hidratación corporal, alimentación, eliminación y ropa. Los reparadores quedaron restringidos a situaciones de emergencia. Conclusión: es necesario capacitar a los profesionales que atienden a los niños con enfermedad falciforme para mejor satisfacción de sus necesidades y de su familia

Current challenges in the management of patients with sickle cell disease - A report of the Italian experience.

Sickle cell disease (SCD) is an inherited red blood cell disorder caused by a structural abnormality of hemoglobin called sickle hemoglobin (HbS). Clinical manifestations of SCD are mainly characterized by chronic hemolysis and acute vaso-occlusive crisis, which are responsible for severe acute and chronic organ damage. SCD is widespread in sub-Saharan Africa, in the Middle East, Indian subcontinent, and some Mediterranean regions. With voluntary population migrations, people harboring the HbS gene have spread globally. In 2006, the World Health Organization recognized hemoglobinopathies, including SCD, as a global public health problem and urged national health systems worldwide to design and establish programs for the prevention and management of SCD. Herein we describe the historical experience of the network of hemoglobinopathy centers and their approach to SCD in Italy, a country where hemoglobinopathies have a high prevalence and where SCD, associated with different genotypes including ß-thalassemia, is present in the native population.

Ethical issues in denial of church wedding based on couple's hemoglobin genotype in Enugu, south eastern Nigeria.

BACKGROUND: Sickle cell anemia (SCA) is a major genetic disease with the greatest burden in sub-Saharan Africa. To try to help reduce this burden, some churches in Nigeria conduct premarital sickle cell hemoglobin screening and refuse to conduct weddings when both individuals are identified as carriers of sickle cell trait. MAIN BODY: This paper explores the ethical challenges involved in such denials. We assess whether churches have the right to decline to marry adults who understand the risks and still prefer to get married, and whether couples should be denied church weddings based on the risk that their child may suffer from sickle cell anemia. We examine the moral and ethical dimensions of such denials and explore the underlying socio-cultural context involving the purpose of marriage and the meaning of the wedding ceremony in societies where premarital screening is one of the few tools available to reduce the risk of having children with SCA. The potential role of the church is also examined against the background of church beliefs, the duty of the church to its members and its role in reducing the suffering of its members and /or their children. CONCLUSION: We argue that the church should impose these burdens on couples only if doing so promotes a sufficiently compelling goal and there is no less burdensome way to achieve it. We then argue that the goal of reducing the number of individuals in Nigeria who have SCA is compelling. However, testing earlier in life offers a less burdensome and potentially even more effective means of achieving this goal. This suggests that, advocating for earlier screening and helping to support these programs, would likely better promote the church's own goals of helping its parishioners, increasing the number of church weddings, and reducing the burden of SCA in Nigeria.

A justice-based argument for including sickle cell disease in CRISPR/Cas9 clinical research.

CRISPR/Cas9 is quickly becoming one of the most influential biotechnologies of the last five years. Clinical trials will soon be underway to test whether CRISPR/Cas9 can edit away the genetic mutations that cause sickle cell disease (SCD). This article will present the background of CRISPR/Cas9 gene editing and SCD, highlighting research that supports the application of CRISPR/Cas9 to SCD. While much has been written on why SCD is a good biological candidate for CRISPR/Cas9, less has been written on the ethical implications of including SCD in CRISPR/Cas9 research. This article will argue that there is a strong case in favor of including SCD. Three benefits are achieving distributive justice in research, continuing to repair the negative relationship between patients with SCD and the health-care system, and benefit-sharing for those who do not directly participate in CRISPR/Cas9 research. Opponents will argue that SCD is a risky candidate, that researchers will not find willing participants, and that the burden of SCD is low. Of this set of arguments, the first gives pause. However, on balance, the case in favor of including SCD in CRISPR/Cas9 research is stronger than the case against. Ultimately, this article will show that the historic and sociopolitical injustices that impede progress in treating and curing SCD can be alleviated through biotechnology.

Sickle Cell Anemia in Cuba: Prevention and Management, 1982-2018.

Sickle cell anemia is the most common hereditary disease in Cuba. On average, 1 in 33 Cubans is a carrier of this severe hemolytic anemia that can cause early death. In early 1980, its incidence in Cuba was calculated at 1 in 1600 births. In 1982, the Cuban public health system established the Sickle Cell Anemia Prevention Program, which aims to prevent the disease through identification of carrier couples and antenatal diagnosis of fetuses with disease-associated genotypes. In 1982-2018, hemoglobin genotypes were tested in 4,847,239 pregnant women. Of these, 168,865 (3.5%) were found to be carriers or to have sickle cell disease. During the same period, 8180 at-risk couples were identified, of whom 79.2% agreed to an antenatal study for detection of the sickle cell gene in the fetus. Among fetuses diagnosed, 20.1% had the SS genotype, the most clinically severe; 76.2% of the associated couples decided to interrupt the pregnancy. This program has resulted in a 3-fold reduction in prevalence of sickle cell disease in Cuba, a 10-fold reduction in the number of infants born with it each year, and a 16-year average increase in life expectancy of sickle cell disease patients of both sexes. Key contributors to these results have been universal screening of pregnant women in primary care, installation of diagnostic laboratories in every province, genetic counseling for couples, testing of fetal DNA (allowing couples to decide whether to continue the pregnancy if the fetus tests positive for the disease) and guaranteed multidisciplinary clinical care for patients. The Cuban experience shows that a middle-income country can mitigate the impact of a genetic disease through a universal preventive program based in primary care, which also pays particular attention to afflicted patients. KEYWORDS Sickle cell anemia, sickle cell disease, sickle cell disorders, hemolytic anemia, sickle cell trait, sickle cell hemoglobin C disease, HbS disease, prevention, antenatal screening, preventive health services, Cuba.

Paediatric immunisation and chemoprophylaxis in a Ugandan sickle cell disease clinic.

AIM: We aimed to assess the receipt of recommended care for young children with sickle cell disease (SCD) in a central SCD clinic in Kampala Uganda, focusing on standard vaccination and antibacterial and antimalarial prophylaxis. METHODS: A cross-sectional assessment of immunisation status and timeliness and prescribed antibacterial and antimalarial prophylaxis was performed in a sample with SCD aged ≤71 months in Mulago Hospital SCD Clinic. Government-issued immunisation cards and clinic-issued visit records for prescribed prophylaxis were reviewed. RESULTS: Vaccinations were documented by immunisation cards in 104 patients, mean age 31.7 months (range 3-70 months). Only 48 (46.2%) received all doses of each of the four recommended vaccine types, including pneumococcal 10-valent conjugate vaccine (pneumococcal conjugate vaccine (PCV)-10), which became available in 2014. Vaccination completion was associated with younger age and, for polio, maternal employment. PCV-10 series was completed in 54.8% of the sample and in 18.2% of those aged 48-71 months. Of children completing all vaccination types, an average 68.8% were immunised on time, defined as <60 days beyond the recommended age. Only 17 (13.5%) children were both fully and timely vaccinated. In an overlapping sample of 147 children, with a mean age of 38.4 months (4-70 months), 81.6% had ≥1 documented prescription for penicillin and/or antimalarial prophylaxis. CONCLUSIONS: Standardised vaccination and antibacterial and antimalarial protective measures for young children at this central SCD clinic were incomplete, especially PCV-10 for age ≥24 months, and often late. Child age, but not general maternal demographics, were associated with vaccination and chemoprophylaxis. Clinic-based oversight may improve timely uptake of these preventative measures.