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Sickle cell disease (SCD) is a common genetic disorder in Africa. Some ongoing work in SCD research includes the analysis and comparisons of variation in phenotypic presentations and disease outcomes with the genotypic signatures. This has contributed to the observed growth of molecular and genetic data in SCD. However, while the "omics" data continues to pile, the capacity to interpret and turn the genetic findings into clinical practice is still underdeveloped, especially in the developing region. Building bioinformatics infrastructure and capacity in the region is key to bridging the gap. This paper seeks to illustrate how the Sickle Cell Programme (SCP) at the Muhimbili University of Health and Allied Sciences (MUHAS) in Tanzania, modeled the integration of infrastructure for bioinformatics and clinical research while running day-to-day clinical care for SCD in Tanzania.
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Anemia Falciforme , Humanos , Tanzânia , Anemia Falciforme/genética , Anemia Falciforme/terapia , Inquéritos e QuestionáriosRESUMO
Purpose: To assess clinical and haematological outcomes of Hydroxyurea accessed via various access means and uncover the barriers to its utilization in children with Sickle cell anaemia (SCA), North-western Tanzania. Patients and Methods: A retrospective study was conducted between October 2020 and April 2021 at Bugando Medical Centre (BMC) through review of medical files to compare the clinical and haematological outcomes among children with SCA at baseline and followed up retrospectively for at least one year of hydroxyurea utilization, accessed via cash, insurance and projects. Subsequently, a cross-sectional survey was conducted among parents and caregivers to ascertain the barriers to access of hydroxyurea via the various means. The p-values <0.05 were considered statistically significant. Results: We identified 87 children with SCA who were on hydroxyurea for at least one year. The median age at baseline (before hydroxyurea) was 99 [78-151] months, and 52/87 (59.8%) were male. Compared to baseline, there was a significant reduction in proportion of patients reporting vaso-occlusive crisis, admissions and blood transfusions, a significant increase in Haemoglobin and mean corpuscular volume, conversely a significant reduction in absolute neutrophil and reticulocytes to both insurance and project participants. There was no significant change in most of these parameters among patients who accessed hydroxyurea via cash. Further, a total of 24/87 (27.6%) participants reported different barriers to access of hydroxyurea, where 10/24 (41.7%) reported hydroxyurea to be very expensive, 10/24 (41.7%) reported insurance challenges, and 4/21 (16.6%) reported unavailability of the drug. Conclusion: The paediatric patients utilizing hydroxyurea accessed via insurance and projects, but not cash, experienced significant improvement in the clinical and haematological outcomes. Several barriers for access to hydroxyurea were observed which appeared to impact these outcomes. These findings call for concerted efforts to improve the sustainable access to hydroxyurea among all patients with SCA.
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Objective: Cultural norms, community-specific cultural or religious beliefs, and resultant patient health-belief models are known to pose a significant but imperceptible barrier to breast cancer care. However, there is a paucity of data addressing the need for culturally relevant breast clinic navigation in the context of culturally diverse regions. Thus, this study aimed to assess the benefit of culturally similar breast clinic navigators in facilitating treatment adherence and improving overall care in patients. Materials and Methods: This study was a retrospective qualitative study. It included breast cancer patients who attended our clinic from January, 2017 to December, 2017 and whose management plan included neoadjuvant chemotherapy. These patients were assigned culturally similar breast clinic navigators who counselled them from diagnosis, to treatment, to survivorship. Additionally, navigation concerns were grouped into the following: Navigating the neighbourhood, navigating hostile hospital environments, and navigating medical consultations. Results: Through counselling sessions and regular telephone follow-up, breast clinic navigators were able to address navigation concerns, provide support for the patient as well as inform the multidisciplinary team (MDT) on the patient's thought process and potential barriers for care. Thus, treatment plans were personalised, resulting in improved, holistic care. Conclusion: The role of culturally relevant patient navigators within the MDT is not well-described in the current literature. However, this role is useful where a gap exists between medical professionals and patients from varied backgrounds. Thus, navigators from the same/similar backgrounds help improve the healthcare worker's understanding of the patient's thought process, ensuring good quality and holistic breast cancer care.
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BACKGROUND: Globally, Sickle cell disease (SCD) is one of the most common genetic disease with high childhood mortality. Early identification of babies with SCD through newborn screening (NBS) and linking them to care are among the recommended interventions. The purpose of this study was to assess the efficacy of maternal health education and maternal screening for SCD on knowledge and the uptake of infant screening for SCD among mother-infant pairs attending antenatal clinics at Government health facilities in Dar-es-salaam, Tanzania. METHODS: This study was a pre-test post-test, quasi-experimental which involved pregnant women attending antenatal clinics at three hospitals; Mbagala hospital, Sinza hospital and Buguruni health center in Dar Es Salaam. A structured questionnaire was used in data collection. Knowledge on SCD was assessed for all participants before and after two sessions of health education. Participants in Mbagala and Buguruni were also screened for SCD using Sickle SCAN point-of-care test (BioMedomics Inc, USA). The efficacy for health education intervention was computed as the post-intervention minus baseline knowledge score. For proportions, a two-sample z-test was used. Univariate and multivariate logistic regression were used to analyze the efficacy of health education intervention and also predictors of infant diagnosis. RESULTS: For two sessions of health education intervention, a total of 467 pregnant women completed the sessions. During antenatal visits, a total of 218 were screened for SCD. The proportion of participants with good knowledge of SCD had significantly increased to 85.9% from 12.4% at baseline following the education intervention. In multivariate analysis, sharing the received education on SCD was an independent predictor of the efficacy of health education intervention. Maternal occupation, maternal SCD status as well as sharing the received education on SCD were independent predictors of the uptake of SCD infant diagnosis. CONCLUSION: This study has demonstrated that maternal health education and maternal screening for SCD are feasible and efficacious interventions in raising knowledge and improving the uptake of infant diagnosis for SCD. These interventions are strongly recommended to be included in the comprehensive care package for pregnant women attending antenatal clinics, particularly in areas with a high burden of SCD.
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Anemia Falciforme , Educação em Saúde , Recém-Nascido , Humanos , Feminino , Gravidez , Lactente , Criança , Tanzânia , Instituições de Assistência Ambulatorial , Anemia Falciforme/diagnóstico , Inquéritos e QuestionáriosRESUMO
Brain injury is a common complication of sickle cell anaemia (SCA). White matter (WM) and cortical and subcortical grey matter (GM), structures may have reduced volume in patients with SCA. This study focuses on whether silent cerebral infarction (SCI), vasculopathy or anaemia affects WM and regional GM volumes in children living in Africa. Children with SCA (n = 144; aged 5-20 years; 74 male) and sibling controls (n = 53; aged 5-17 years; 29 male) underwent magnetic resonance imaging. Effects of SCI (n = 37), vasculopathy (n = 15), and haemoglobin were assessed. Compared with controls, after adjusting for age, sex and intracranial volume, patients with SCA had smaller volumes for WM and cortical, subcortical and total GM, as well as bilateral cerebellar cortex, globus pallidus, amygdala and right thalamus. Left globus pallidus volume was further reduced in patients with vasculopathy. Putamen and hippocampus volumes were larger in patients with SCA without SCI or vasculopathy than in controls. Significant positive effects of haemoglobin on regional GM volumes were confined to the controls. Patients with SCA generally have reduced GM volumes compared with controls, although some subcortical regions may be spared. SCI and vasculopathy may affect the trajectory of change in subcortical GM and WM volume. Brain volume in non-SCA children may be vulnerable to contemporaneous anaemia.
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Despite three decades of proven safety and effectiveness of hydroxyurea in modifying sickle cell disease (SCD), its accessibility is limited in Sub-Saharan Africa, which shares 75% of the world's SCD burden. Therefore, it is time to explore the barriers and facilitators for manufacturing and importation of hydroxyurea for SCD in Tanzania. This was qualitative research that employed a case study approach. Purposive sampling followed by an in-depth interview (IDI) using a semi-structured questionnaire aspired by data saturation enabled us to gather data from 10 participants. The study participants were people with more than three years of experience in pharmaceuticals importation, manufacturing, and regulation. The audio-recorded data were verbatim transcribed and analyzed using thematic analysis. Two themes were generated. The first comprised barriers for importation and manufacturing of hydroxyurea with sub-themes such as inadequate awareness of SCD and hydroxyurea, limited market, and investment viability. The second comprised opportunities for importation and manufacturing of hydroxyurea with sub-themes such as awareness of activities performed by medicines regulatory authority and basic knowledge on SCD and hydroxyurea. Inadequate understanding of SCD, hydroxyurea, and orphan drug regulation are major issues that aggravate the concern for limited market and investment viability. Existing opportunities are a starting point towards increasing the availability of hydroxyurea.
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Sickle Cell Disease (SCD) is a known public health burden in sub-Saharan Africa (SSA). The manifestation of SCD starts in early childhood and if not well-managed may lead to early death (before the age of 5 years). Understanding the underlying mechanisms that influence early SCD manifestation is of great importance for early disease and intervention management which will in turn, reduce both morbidity and mortality rates in children. One approach of achieving this is by establishing SCD birth cohorts that can be followed for a period of time (3-5 years) whilst documenting necessary information related to early childhood illnesses. To date, there are few SCD birth cohorts in Africa. To address this gap, we have established a birth cohort of babies with and without SCD (with sickle cell trait and healthy babies). These babies are followed up for 3 years with their study visits synchronized to the immunization schedule. During enrollment and follow-up visits, information on demographic, clinical, and laboratory parameters are collected. To date, we have enrolled a total of 341 babies with and without SCD. Out of these, a total of 311, 186, 133, 81, 44, and 16 babies have returned for their 1st, 2nd, 3rd, 4th, 5th, and 6th visits, respectively. We have collected both demographic and clinical information for these babies at enrollment and during follow-up. We have also utilized this platform to learn on the best approaches of establishing and maintaining a research birth cohort in an African context. We have analyzed the practical issues pertaining to the integration of the birth cohort with the immunization platform which seems to be the most effective and sustainable strategy for maintaining a birth cohort in our context.
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Background: Bacterial infections contribute significantly to morbidity and mortality in sickle cell disease (SCD) patients, particularly children under five years of age. In Tanzania, prophylaxis against pneumococcal infection among children with SCD advocates the use of both oral penicillin V (PV) and pneumococcal vaccines (PNV). Therefore, this study aimed to investigate nasopharyngeal carriage and antibiogram of Streptococcal pneumoniae (S. pneumoniae) and Staphylococcus aureus (S. aureus) in children with SCD in Tanzania. Methods: This cross-sectional study was undertaken at the two Sickle Pan-African Research Consortium (SPARCO) study sites in Dar es salaam, Tanzania. The study was conducted for six months and enrolled children with SCD between the ages of 6 to 59-months. A semi-structured questionnaire was used to collect patient data. Nasopharyngeal swabs were collected from all participants and cultured for Streptococcal pneumoniae and other bacterial isolates. Antimicrobial susceptibility tests of the isolates were done using the disc diffusion method. Results: Out of 204 participants, the overall prevalence of bacterial carriage was 53.4%, with S. aureus (23.5%), coagulase-negative Staphylococci (CoNS) (23%) and S. pneumoniae (7.8%) being commonly isolated. In antibiotic susceptibility testing, S. aureus isolates were most resistant to penicillin (81.8%), whereas 81.3% of S. pneumoniae isolates were resistant to co-trimoxazole. The least antimicrobial resistance was observed for chloramphenicol for both S. aureus and S. pneumoniae isolates (6.3% versus 0%). The proportion of multi-drug resistance (MDR) was 66.7% for S. aureus isolates and 25% for S. pneumoniae isolates. Conclusion: There are substantially high nasopharyngeal carriage pathogenic bacteria in children with SCD in Dar es Salaam, Tanzania. The presence of MDR strains to the commonly used antibiotics suggests the need to reconsider optimizing antimicrobial prophylaxis in children with SCD and advocacy on pneumococcal vaccines.
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Purpose: To determine oxygen saturation in the pulp of primary teeth in children with sickle cell disease (SCD) and sickle cell trait (SCT) for establishing the usefulness of pulse oximetry in screening and monitoring of SCD or therapy. Materials and Methods: A cross-sectional study among 30-60 months children with sickle cell disease (SCD) and sickle cell trait (SCT) compared with healthy children (HbAA). A pulse oximeter (BCI 3301) recorded oxygen saturation on six anterior primary maxillary teeth and on index fingers. Data were analyzed using SPSS version 20.0. Mean oxygen saturation for teeth and fingers was calculated. Comparison of Mean across groups was done using post hoc analysis in one-way ANOVA (Bonferroni test). Pearson correlation coefficient was calculated for mean oxygen saturation on fingers and teeth. Level of significance was set at 0.05. Results: Altogether 360, 102, and 96 teeth were examined from children with SCD, SCT, and HbAA respectively. 53% of participants were girls. The mean age of participants was 46.3 months ± 9.4 SD. Low mean oxygen saturation (77.5%) was recorded from teeth of children with SCD relative to those with SCT and HbAA (>86%; P = 0.00). There was no statistically significant difference in oxygen saturation on teeth between children with SCT and HbAA. The mean oxygen saturation on fingers was found to be above 97.2% regardless of sickle cell status. There was no correlation between oxygen saturation on teeth and fingers. Conclusion: Pulse oximeter detected a lower oxygen saturation in dental pulp of primary teeth of participants with SCD (HbSS) relative to those with SCT (HbAS) and HbAA. Oxygen saturation on fingers remained unaffected regardless of sickle cell disease status. Although more studies are needed, our study shows that when other conditions affecting peripheral tissue oxygen delivery are ruled out, the low pulse oximetry in primary teeth may be indicative of SCD. The oximeter may also be useful in monitoring response to SCD therapy targeted at improving oxygen carrying capacity and delivery.
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OBJECTIVES: HemoTypeSCTM is one of the immunoassay methods currently used for the early diagnosis of Sickle Cell Disease (SCD) in newborns. Earlier diagnosis remains the key strategy for early preventive care needs and parents' education about the child's future well-being throughout his life. Before considering these children as sick and aligning them for regular medical monitoring, it may be valuable to confirm the HemoTypeSC result with a secondary laboratory testing method. In resource-limited settings, where confirmatory methods are not always available, we propose testing the parents to validate the HemoTypeSC result. METHODS: This study explored this approach in the city of Kisangani. It was a prospective diagnostic accuracy study using genotype biological parents to evaluate HemoTypeSC's performance in the newborn. RESULTS: Fifty-eight children born to 46 known mothers, and 37 known fathers, have been tested. The phenotyping showed that 41 (70.7%) children were SS, whose 37 were born to a couple AS/AS and 4 to a couple AS/xx. Of the 41 SS children, 8 (19.5%) were newborns and 33 (80.4%) were children; 12 (20.6%) children were AS, one of whom was born to a couple SS/AA and 11 to a couple AA/SS; 5 (8.6%) children were AA. In this population, the probability of offspring born to AS/AS parents being SS rather than AS is high (odds, 1.25). No statistical difference was observed between girls and boys. The pedigree of all 58 children has been confirmed. CONCLUSION: We demonstrated that testing biological parents with HemoTypeSC is a reliable confirmatory method for newborn screening but it presents some limitations discussed in the present article.
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Anemia Falciforme , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Criança , República Democrática do Congo/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Pais , Linhagem , Estudos ProspectivosRESUMO
The African Society of Human Genetics (AfSHG) was formed to provide a forum for human genetics and genomics scientists in Africa to interact, network, and collaborate. This is critical to facilitate development of solutions to the public health burden of many rare and common diseases across the continent. AfSHG fully supports the Black Lives Matter movement, which is dedicated to fighting racism and ensuring that society values the lives and humanity of Black people. The AfSHG would like to add its "voice" to the public outcry against racism sparked by George Floyd's death and to declare its commitment to ensuring that injustice and systematic racism, as well as abuse and exploitation of Africans and their biological material, are no longer tolerated. This is particularly relevant now as African genomic variation is poised to make significant contributions across several disciplines including ancestry, personalized medicine, and novel drug discovery. "Black Lives Matter and Black Research Matters" is AfSHG's call for the global community to support halting, and reversing, the perpetuation of exploitation of African people through neocolonial malpractices in genomic research. We also propose five key ways to curb racism in science, so that we can move forward together, with a common humanity, collectively embracing scientific endeavors.
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Racismo , África , Genômica , Genética Humana , Humanos , Racismo/prevenção & controleRESUMO
BACKGROUND: Sickle cell disease (SCD) is an important cause of <5 mortality. In Tanzania, it is estimated up to 11 000 children are born with SCD annually, making this the fifth country with the highest SCD annual births worldwide. The biggest challenge of expanding the service of newborn screening for SCD as the national health intervention in Tanzania is due to the high cost of the currently used assays and lack of rapid screening methods. Therefore, in this study, we assessed the diagnostic accuracy of point-of-care tests for SCD diagnosis in newborns. AIM: To evaluate the sensitivity and specificity of HemotypeSC™ and sickle SCAN® in diagnosing SCD in newborns. METHODS: Diagnostic accuracy of HemotypeSC™ and sickle SCAN® were evaluated in comparison to isoelectric focusing as a confirmatory method. RESULTS: A total of 706 newborns were enrolled in the study. The sensitivity and specificity of HemotypeSC in detecting Hb SS, Hb AS and Hb AA phonotypes was 100%. The sensitivity and specificity of sickle SCAN® in detecting Hb SS, Hb AS and Hb AA phenotypes were 100%, 97% and 100% respectively. CONCLUSION: Both POC tests displayed high accuracy in detecting SCD, we believe the introduction of either of these tests in health facilities will help in the early detection and management of SCD. In addition, the margin of cost per test is relatively affordable (1.4$ per test for HemotypeSC™ and 4.75$ for sickle SCAN®).
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Anemia Falciforme , Triagem Neonatal , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Humanos , Recém-Nascido , Triagem Neonatal/métodos , Testes Imediatos , Sensibilidade e Especificidade , Tanzânia/epidemiologiaRESUMO
Skills development, the building of human capacity, is key to any sustainable capacity building effort, however, such undertakings require adaptable and tailored strategies. The Sickle Pan-African Research Consortium (SPARCo) is building capacity in sickle cell disease (SCD) management and research in sub-Saharan Africa, including a multi-national SCD patient registry, this is underpinned by skills development activities in data, research, and SCD management. Method: The SPARCo Skills Working Group was set up with the mandate of coordinating skills development activities across the three SPARCo sites in Ghana, Nigeria and Tanzania. To tailor activities to the requirements of the consortium, a needs assessment was conducted at the start of the project which identified skills required for SCD management and research and catalogued existing external and internal training programmes. The needs assessment highlighted differences in skill levels between the sites and different organisational structures which required tailored skills development activities at individual, site and consortium levels. Strategy: Based on the needs and the resources available, different types of training activities were implemented: these included online, blended and face to face activities. In order to create a sustainable skills development programme, existing short, medium, long-term, on-job training activities were used wherever possible. World Sickle Cell Day (19th June) was leveraged for training and health education activities. Results: SPARCo has recorded 1,726 participants in skills development activities across the three sites. Skills have been enhanced in data management, SCD and research to underpin the core deliverables of SPARCo. Conclusion and Lessons Learned: The baseline needs assessments and continual review and adjustment were critical for development of an effective skill development strategy for the consortium. This adaptability was particularly valuable during the COVID-19 pandemic. The sustainability plan leveraged existing programmes and activities and has created a pool of people with required skills for health care and research in SCD. To be effective, skills development programmes need to take into account existing capacity, training opportunities and local conditions. The model was applied to SCD and is adaptable to other skills development in healthcare and research in low and middle- income countries.
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Tanzania is among the top five countries with a high burden of sickle cell disease (SCD) in the world. Even though the effects of SCD on quality of life have been documented in other countries including Nigeria and the United States of America, few are known from Tanzania. Therefore, this study focused on evaluating the effects of SCD on the quality of life among children living with SCD and their parents. The study employed a qualitative approach to interview purposively selected parents of children who have lived with SCD and have used hydroxyurea (HU) for more than 3 years. The in-depth interviews were conducted with 11 parents of children with SCD at the Muhimbili University of Health and Allied Sciences (MUHAS) in Dar-es-salaam, Tanzania. A semi-structured interview guide was used. Interviews were audio-recorded, transcribed, and thematically analyzed. Three themes were generated including psycho-social effects: family conflicts and divorce, limited access to education, stress and fear; financial effects: Employment limitation, reduced efficiency and productivity, loss of job and lack of self-keeping expenses; and physical effects: physical disability and dependence, and burden of the frequent crisis. Children living with SCD and their parents suffer psycho-social, financial, and physical impacts of the disease. Appropriate interventions should be introduced to minimize the observed effects as ways of improving the quality of life of the individuals living with SCD and their caregivers.
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Anemia Falciforme , Qualidade de Vida , Cuidadores , Criança , Medo , Humanos , Tanzânia/epidemiologiaRESUMO
We report the case of a young female adult in her early 20s, who had COVID-19 infection for 8 weeks and COVID-19 vaccination 4 weeks prior to presentation with an extensive rash associated with erythema multiforme, resembling varicella zoster on initial presentation. After initial acyclovir therapy with no improvement, systemic corticosteroid treatment dramatically resolved the patient's skin rash.
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Vacinas contra COVID-19 , COVID-19 , Eritema Multiforme , Vacinas contra COVID-19/efeitos adversos , Eritema Multiforme/induzido quimicamente , Eritema Multiforme/tratamento farmacológico , Feminino , Humanos , Tanzânia , Vacinação/efeitos adversos , Adulto JovemRESUMO
Since there are inconsistent data relating to the effect of haemoglobinopathies on disposition of artemisinin antimalarial combination therapy, and none in sickle cell trait (SCT) or sickle cell disease (SCD), the aim of this study was to characterize the pharmacokinetic properties of artemether-lumefantrine (ARM-LUM) in children with SCD/SCT. Thirty-eight Tanzanian children aged 5-10 years with normal (haemoglobin AA; n = 12), heterozygous (haemoglobin AS; n = 14) or homozygous (haemoglobin SS; n = 12) sickle genotypes received six ARM-LUM doses (1.7 mg/kg plus 10 mg/kg, respectively) over 3 days. Sparse venous and mixed-capillary dried blood spot (DBS) samples were taken over 42 days. Plasma and DBS ARM and LUM, and their active metabolites dihydroartemisinin (DHA) and desbutyl-lumefantrine (DBL), were assayed using validated liquid chromatography-mass spectrometry. Multi-compartmental pharmacokinetic models were developed using a population approach. Plasma but not DBS concentrations of ARM/DHA were assessable. The majority (85%) of the 15 measurable values were within 95% prediction intervals from a published population pharmacokinetic ARM/DHA model in Papua New Guinean children of similar age without SCD/SCT who had uncomplicated malaria, and there was no clear sickle genotype clustering. Plasma (n = 38) and corrected DBS (n = 222) LUM concentrations were analysed using a two-compartment model. The median [inter-quartile range] LUM AUC0-∞ was 607,296 [426,480-860,773] µg.h/L, within the range in published studies involving different populations, age-groups and malaria status. DBS and plasma DBL concentrations correlated poorly and were not modelled. These data support use of the conventional ARM-LUM treatment regimen for uncomplicated malaria in children with SCT/SCD.
