Sickle Cell Disease In Nigeria Research Articles

A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria.

Newborn screening for sickle cell disease (SCD) is sparse in sub-Saharan Africa. The leadership of the Aminu Kano Teaching Hospital (AKTH) in Kano, Nigeria, with the support of local religious authorities, established a groundbreaking SCD newborn screening program that has become the standard of care for pregnant women and their newborns. Our program includes (1) prenatal genetic counseling for all pregnant women in the antenatal clinic, (2) newborn screening, (3) postnatal genetic counseling for parents of newborns diagnosed with SCD and SCT, and (4) referral of newborns with SCD for follow-up in the SCD Comprehensive Care Clinic by 3 months of age. From September 2020 to December 2023, the team screened 7530 infants for SCD at the AKTH, identifying 126 (1.7%) infants with SCD and 1546 (20.5%) with SCT. Of these, 93 (73.8%) newborns with SCD received individualized genetic counseling, and 43 (46%) were referred to the SCD Comprehensive Care Clinic before 3 months. Group genetic counseling was provided to the parents of 778 (50.3%) of newborns identified with SCT. The SCD newborn screening at the AKTH is now standard care, indicating the viability of sustaining an SCD newborn screening program that provides pre- and postnatal genetic counseling and comprehensive SCD care within a low-income setting.

Sickle cell anemia and early stroke detection and prevention in Nigeria

Sickle cell disease (SCD) is the most common hereditary blood disorder worldwide, and sickle cell anemia (SCA), the homozygous state of SCD, is the most common and severe variant of the disease. Nigeria has the highest burden of SCA in the world. Hemolysis and vaso-occlusion can lead to a wide range of complications, including stroke which is one of the most devastating manifestations of SCA with significant morbidity and mortality. SCA remains the leading cause of stroke in black children. Without any intervention, strokes occur in approximately 11% of children with SCA before their 20th birthday, with the greatest risk in very young children between 2 and 5 years of age. In resource-constrained countries, where the burden of SCA is highest, stroke is underreported, hence the need to develop strategies for stroke prevention and early detection. Improving awareness among healthcare providers and the community can significantly reduce stroke rates and improve stroke detection. The goal of this manuscript is to discuss the progress that has been made in stroke prevention and detection in children with SCA in Nigeria and outline current challenges and future goals. We believe that our experience will be valuable not only in Nigeria which has the highest burden of SCA globally, but also in other low- and middle-income countries.

The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria.

The clinical severity of sickle cell disease (SCD) is strongly influenced by the level of fetal haemoglobin (HbF) persistent in each patient. Three major HbF loci (BCL11A, HBS1L-MYB, and Xmn1-HBG2) have been reported, but a considerable hidden heritability remains. We conducted a genome-wide association study for HbF levels in 1006 Nigerian patients with SCD (HbSS/HbSβ0), followed by a replication and meta-analysis exercise in four independent SCD cohorts (3,582 patients). To dissect association signals at the major loci, we performed stepwise conditional and haplotype association analyses and included public functional annotation datasets. Association signals were detected for BCL11A (lead SNP rs6706648, β= -0.39, P= 4.96 × 10-34) and HBS1L-MYB (lead SNP rs61028892, β= 0.73, P= 1.18 × 10-9), whereas the variant allele for Xmn1-HBG2 was found to be very rare. In addition, we detected three putative new trait-associated regions. Genetically, dissecting the two major loci BCL11A and HBS1L-MYB, we defined trait-increasing haplotypes (P < 0.0001) containing so far unidentified causal variants. At BCL11A, in addition to a haplotype harbouring the putative functional variant rs1427407-'T', we identified a second haplotype, tagged by the rs7565301-'A' allele, where a yet-to-be-discovered causal DNA variant may reside. Similarly, at HBS1L-MYB, one HbF-increasing haplotype contains the likely functional small indel rs66650371, and a second tagged by rs61028892-'C' is likely to harbour a presently unknown functional allele. Together, variants at BCL11A and HBS1L-MYB SNPs explained 24.1% of the trait variance. Our findings provide a path for further investigation of the causes of variable fetal haemoglobin persistence in sickle cell disease.

Faith Healing Techniques in the Management of Sickle Cell Anaemia in Nigeria

AbstractPeople living with sickle cell anaemia (SCA) tend to experience multiple sources of therapy complemented by self-care practices. In Nigeria, over 100,000 babies are born yearly with sickle cell anaemia. High prevalence of this disease in Nigeria is attributed to lack of adequate knowledge about it. Data exist on the role of Western medicine and traditional medicine in the management of several diseases including sickle cell anaemia but little is known about faith therapy. This study therefore examined faith healing techniques in the management of SCA outside the medical settings. Using Weber’s Social Action Theory and Health Belief Model as explanatory framework, qualitative data were obtained through snowball sampling technique which cut across seven local government areas (LGAs) of Osun State—Atakumosa West, Boripe, Osogbo, Ife East, Ifedayo, Ilesa West, and Ila. A total of twenty Key Informant Interview sessions were held while three case studies were generated from the respondents. The study revealed that treatment techniques include prayer, application of herbs, divination, and counselling. Poor adherence to treatment was noted to be due to emotional trauma being experienced by patients and caregivers. Prayer and counselling were effective therapy to manage the condition. Both Christian and Muslim clerics engaged used prayer and fasting as treatment techniques, even though they also recognized the need for modern medical services. Traditional healers diagnosed the disease with divination and applied herbs and charms as well as appease the perceived spirit causing the disease. The Muslim clerics also use herbs. Majority of the practitioners recognized that the problem of emotional trauma (the major threat to adherence to treatment and positive health outcomes) is best surmounted through prayer and fasting. In terms of treatment, the general trends thus entail combination of faith healing through prayer and fasting, spiritual consultation, and the practice of embracing modern medicine where SCA patients are referred to hospitals. This paper therefore concluded that culture and society provide the context for understanding the prevention and treatment of diseases.

Malaria Infection in Patients with Sickle Cell Disease in Nigeria: Association with Markers of Hyposplenism.

Malaria is considered an important cause of morbidity and mortality among people living with sickle cell disease (SCD). This has partly been attributed to the loss of splenic function that occurs early in the disease process. We conducted a cross-sectional study and determined the frequency of malaria infection among SCD patients and explored the association with spleen's presence on ultrasonography and spleen function assessed using the frequency of Howell-Jolly bodies (HJBs). A total of 395 participants consisting of 119 acutely-ill SCD patients, 168 steady-state SCD controls, and 108 healthy non-SCD controls were studied. The prevalence of Plasmodium falciparum parasitemia was 51.3% in acutely-ill SCD patients, 31.7% in steady-state SCD controls, and 11.0% in the healthy non-SCD controls; however, the mean parasite density was significantly higher in the non-SCD controls compared to both SCD groups (p = 0.0001). Among the acutely-ill SCD patients, the prevalence of clinical malaria and severe malaria anemia were highest in children <5 years of age. The prevalence of parasitemia (p = 0.540) and parasite density (p = 0.975) showed no association with spleen presence or absence on ultrasonography. Similarly, the frequency of HJB red cells was not associated with the presence of parasitemia (p = 0.183). Our study highlights the frequency and role of malaria infection in acutely-ill SCD patients, especially in those younger than five years. Although we have found no evidence of an increased risk of malaria parasitemia or parasite density with markers of hyposplenism, the role played by an underlying immunity to malaria among SCD patients in malaria-endemic region is not clear and needs further studies.

Are We Missing Hypothyroidism among Children with Sickle Cell Anaemia?

Children with sickle cell anaemia have been reported to have potential risk of hypothyroidism from chronic blood transfusions and probable thyroid tissue ischaemia. However, few studies on hypothyroidism status of children with sickle cell anaemia in Nigeria are available. The objective of this study was to determine the prevalence of hypothyroidism among children with sickle cell anaemia. A cross sectional study that assayed the thyroid hormones and thyroid stimulating hormone (TSH) of 71 children with sickle cell anaemia was conducted at Olabisi Onabanjo University Teaching Hospital Sagamu. Using age appropriate hormonal reference values, the subjects were classified into subclinical, primary and secondary hypothyroidism. The mean serum TSH, Free T3, and Free T4 were comparable irrespective of age category (p > 0.05). No subject was identified to have low TSH value while 7.0% had high TSH value. Low free T3 was identified in 1.4% and 8.5% had high free T3 values. Low free T3 and free T4 were seen in 11.3% each of the subjects. The overall prevalence of primary, secondary and subclinical hypothyroidism was 0%, 0% and 4.2%, respectively. Sub-clinical hypothyroidism does occur in Nigerian children with sickle cell anaemia. Routine screening for hypothyroidism is advocated in all children with sickle cell anaemia.

Arterial blood pressure indices among young adults with sickle cell anaemia in Nigeria

Arterial blood pressure indices among young adults with sickle cell anaemia in Nigeria

The Importance of Screening for Food Insecurity in Children with Sickle Cell Anemia: An Ancillary Study to the Severe Acute Malnutrition Feasibility Trial in Nigeria

Introduction Household food insecurity-lacking access to, or having uncertain access to, food that meets a person's dietary needs-is a longstanding problem in Nigeria that has continued to worsen in recent years. One of its most severe consequences is malnutrition, particularly affecting children due to their high nutrient demand coupled with higher energy expenditure. Even in high-income countries, such as the United States, many children with sickle cell anemia have lower weights and heights than their healthy peers. Due to their elevated nutrient requirements, children with sickle cell anemia may be at an even greater risk of malnutrition when faced with limited access to adequate food. The relationship between childhood food insecurity and malnutrition has been previously studied in younger children in Nigeria, but rarely in older children, and to our knowledge, never in older children with sickle cell anemia. We tested the hypothesis that there is a direct association between increased food insecurity and more severe malnutrition (lower body mass index [BMI] z-score) in older children with sickle cell anemia in Nigeria. Methods This was a planned analysis of the data of children enrolled in a feasibility trial for managing severe acute malnutrition in older children with sickle cell anemia in Nigeria (SAMS trial; #NCT03634488). In this study, children 5-12 years old with sickle cell anemia and uncomplicated severe acute malnutrition (BMI z-score &amp;lt;-3.0) were randomly assigned to receive either supplemental ready-to-use therapeutic food (RUTF) only or RUTF combined with moderate fixed-dose hydroxyurea therapy for 12 weeks. Baseline anthropometric data were obtained for each participant. Upon enrollment in the trial, the participants' caregivers completed the US Household Food Security Survey Module (HFSSM). Using the eight questions in the childhood portion of this standardized survey, we categorized the participants into three food security statuses: food security (0-1), low food security (2-4), and very low food security (5-8). Childhood food security scores were also measured as a continuous variable on a scale of 0-8, with higher scores indicating greater food insecurity. We constructed a linear regression model to estimate the association between childhood food insecurity and baseline BMI z-score. Results Data were collected between August 2021 and May 2022. The median age of the 108 participants in the study was 10.3 years (IQR 8.8-11.5). Most participants had low (55%) or very low (34%) food security. BMI z-score was not associated with categorical food security status (p=0.108). However, higher food insecurity as a continuous variable was associated with a lower BMI z-score (Pearson correlation -0.23, p=0.015; Figure 1). In a multivariable linear regression with sex, age at study entry, total hemoglobin, employment status, and head of household educational status, the childhood food insecurity score was negatively associated with the BMI z-score (Beta coefficient = -.05, p=0.047). Conclusions Our study reveals a high prevalence of food insecurity among older children with sickle cell anemia in Nigeria. Moreover, children experiencing higher food insecurity also exhibited more severe malnutrition, as evidenced by their lower BMI z-scores. Based on these results, we have started implementing food insecurity assessment as routine medical care in children with sickle cell anemia at multiple clinics in northern Nigeria. Children experiencing higher levels of food insecurity are referred to nutritional counseling, where they receive guidance on locally available nutrient-dense foods and preparation strategies. Figure 1.The predicted baseline body mass index z-score with 95% confidence intervals based on childhood food insecurity scores from a linear regression model of the participants in the SAMS trial.

Risk factors in underweight older children with sickle cell anemia: a comparison of low- to high-income countries

AbstractPreviously, we demonstrated that older children with sickle cell anemia (SCA) living in Nigeria are at increased risk of death if they are underweight (weight-for-age z score < −1). We now conducted a cross-sectional study in low- and high-income settings to determine the risk factors for being underweight a in children aged 5 to 12 years with SCA. The children from low- and high-income settings were eligible participants for the Primary Prevention of Stroke in Children with Sickle Cell Disease in Nigeria (SPRING; N = 928) and the Silent Cerebral Infarct (SIT, North America/Europe; N = 1093) trials, respectively. The median age in the SPRING and SIT cohorts was 8.1 and 8.5 years, respectively (P < .001). A total of 87.9% (n = 816) of participants in the SPRING trial (low-income) met the study criteria for being underweight (weight-for-age z score < −1), and 22.7% (n = 211) for severely underweight (weight-for-age z score < −3), significantly higher than the SIT (high-income) cohort at 25.7% underweight (n = 281) and 0.7% severely underweight (n = 8; P < .001 for both comparisons). In the combined cohort, older age (odds ratio [OR], 1.24; P < .001) and lower hemoglobin level (OR, 0.67; P < .001) were associated with being underweight. Age and hemoglobin level remained statistically significant in separate models for the SPRING and SIT cohorts. Older age and lower hemoglobin levels in children aged 5 to 12 years with SCA are associated with being underweight in low- and high-income settings.

Bacteraemia Among Patients with Sickle Cell Disease in Nigeria: Association with Spleen Size and Function.

Bacteraemia Among Patients with Sickle Cell Disease in Nigeria: Association with Spleen Size and Function.

Impact of Sickle Cell Disease on Affected Individuals in Nigeria: A Critical Review.

Sickle cell disease is an autosomal recessive disorder of the beta-globin gene, with resultant deformation of the red blood cells and variable clinical outcomes. Nigeria is recognised as the country with the highest burden of sickle cell disease globally. This study aimed at critically reviewing available literature on impact of sickle cell disease in Nigeria. A literature search was carried out on four databases, and a total of 116 articles that met the inclusion criteria were included in the critical review. It was observed that majority of the studies were carried out in South-Western part of Nigeria (47.4%), whilst the North-East had the least number of studies undertaken in this area, more than a quarter of the studies (27.6%) were related to hematologic and serologic screening. Major themes that emerged from this review were morbidity and mortality; prevalence of sickle cell disease; issues relating to blood transfusion; psychosocial impact; and anatomical dysfunction in sickle cell disease. Intervention programs from both government and non-governmental organizations aimed at reducing the burden of sickle cell disease and its socio-economic impact were identified as key to strategies aimed at overcoming challenges associated with the disease. Findings from this study also revealed that education and awareness interventions were central to reducing the prevalence of sickle cell disease in this setting.

Feasibility trial for the management of severe acute malnutrition in older children with sickle cell anemia in Nigeria

AbstractChildren with sickle cell anemia (SCA) living in Nigeria are at an increased risk of malnutrition, which contributes to increased morbidity and mortality. However, evidence-based guidelines for managing malnutrition in children with SCA are lacking. To address this gap, we conducted a multicenter, randomized controlled feasibility trial to assess the feasibility and safety of treating children with SCA aged from 5 to 12 years and having uncomplicated severe acute malnutrition (body mass index z score of <−3.0). Children with SCA and uncomplicated severe acute malnutrition were randomly allocated to receive supplemental ready-to-use therapeutic food (RUTF) with or without moderate-dose hydroxyurea therapy (20 mg/kg per day). Over a 6-month enrollment period, 3190 children aged from 5 to 12 years with SCA were evaluated for eligibility, and 110 of 111 children who were eligible were enrolled. During the 12-week trial, no participants withdrew or missed visits. One participant died of unrelated causes. Adherence was high for hydroxyurea (94%, based on pill counts) and RUTF (100%, based on the number of empty sachets returned). No refeeding syndrome event or hydroxyurea-related myelosuppression occurred. At the end of the trial, the mean change in body mass index z score was 0.49 (standard deviation = 0.53), and 39% of participants improved their body mass index z score to ≥−3.0. Our findings demonstrate the feasibility, safety, and potential of outpatient treatment for uncomplicated severe acute malnutrition in children with SCA aged from 5 to 12 years in a low-resource setting. However, RUTF sharing with household and community members potentially confounded the response to malnutrition treatment. This trial was registered at clinicaltrials.gov as #NCT03634488

Assessment of the risk of stroke in children with sickle cell anemia using transcranial doppler ultrasound with imaging in Northwestern Nigeria

Background: Stroke is a major cause of morbidity and mortality affecting about 10% of patients with sickle cell anemia (SCA). Transcranial Doppler (TCD) ultrasonography helps to identify children with SCA who are at an increased risk for stroke. This study aimed to determine the risk of stroke in children with SCA in steady state using Transcranial Doppler with Imaging (TCDI) scan abnormalities and the prevalence of TCDI scan abnormalities among children with SCA in northern Nigeria.&#x0D; Materials and Methods: We conducted acomparative study among 240 persons with SCA who attended a pediatric sickle cell clinic in northern Nigeria and were in steady state condition. We performed a transcranial ultrasound examination and collected blood samples to perform full blood counts and hemoglobin electrophoresis.&#x0D; Results: Abnormal velocities were obtained in 11 (9.3%) children with SCA; while 16 (13.6%) had conditional velocities and 89 (76.7%) of those had normal velocities in one or more of the four vessels studied. Most of the children in the control group 116 (96.7%) had normal velocities and the difference between the groups was not statistically significant (χ 2 = 0.59, p &gt; 0.05).&#x0D; Conclusion: The use of TCDI sonography to predict the risk of stroke should be included in the standard of care in children with SCA in Nigeria and should be included in routine evaluation of disease severity in children with SCA

Strategies to improve healthcare services for patients with sickle cell disease in Nigeria: The perspectives of stakeholders.

Background: Sickle cell disease (SCD) continues to pose physical and psychosocial burdens to patients, caregivers and health workers. Stakeholder engagement in the processes of policy making and implementation is increasingly becoming the cornerstone of best practices in healthcare. Aim and Objectives: To engage stakeholders with a view to assessing the knowledge of SCD; ascertain the challenges associated with accessibility and affordability of healthcare services; improve the quality of care, and thereby effect behavioral change through increasing attendance and follow-up of patients in the clinics. Methodology: A Stakeholders' Engagement meeting organized by the Sickle Pan Africa Research Consortium Nigeria Network (SPARC-NEt) was attended by patients, caregivers and members of patient support groups, healthcare providers and management/policymakers. The engagement was through PowerPoint presentations, structured questionnaires and an interactive session. The structured questionnaire assessed the knowledge of stakeholders about SCD; the quality of healthcare services; challenges with access and affordability; and SCD-related government policies. Results: Three hundred and twelve stakeholders attended the engagement meeting. Of the 133 that participated in the study, medical workers were the most represented. The majority had good knowledge of what causes SCD (96.2%) and the best place to get help during SCD crisis (98.5%). However, knowledge of the specific preventive measures of SCD and its crisis was not optimal. In terms of the role of community engagement and education, only about one-quarter of the study participants, 34 (25.6%) knew about their positive role in reducing the prevalence of SCD and alleviating SCD crises. Challenges identified include inadequate healthcare personnel and facilities, delay in obtaining laboratory results, long waiting time in the clinic, poor communication, absence of holistic consultation, uncoordinated healthcare services, high cost of care, ignorance, non-prioritization of SCD by government, lack of multisectoral collaboration and partnership with NGOs and international organizations. Strategies proffered to improve healthcare services include, community/stakeholder engagement and health education, sickle cell daycare services, access to a willing and dedicated multidisciplinary workforce, collaboration with support groups and government policies and programs. Conclusion: There is need for regular stakeholder engagement to improve access to healthcare services for SCD patients in Nigeria.

Prenatal diagnosis and preimplantation genetic diagnosis for sickle cell disease in Africa

Sickle cell disease (SCD) is the most common genetic haematological disorder worldwide, and it is a major public health concern, especially in Sub-Saharan Africa. Prenatal diagnosis (PD) and preimplantation genetic diagnosis (PGD) are important reproductive options for the prevention of SCD. Despite the high prevalence of SCD in Nigeria and Sub-Saharan Africa, current trends in PD and PGD for the prevention of SCD are still slow compared to that in developed countries. Attitudes towards PD and PGD for the prevention of SCD in African are influenced by level of awareness, knowledge and educational status, and the main barriers to the uptake of PD and PGD for SCD in Africa are cost, religion, sociocultural, ethical and moral considerations. We reviewed available data on PD and PGD for SCD in Africa, using the PubMed, PubMed Central, Google Scholar and African Index Medicus search engines, through a combination of words and phrases relevant to the subject. This article reviewed the current trends in PD and PGD for the prevention of SCD and discussed the attitudes towards and the barriers to the uptake of PD and PGD for SCD in Africa.

Establishing a database for sickle cell disease patient mapping and survival tracking: The sickle pan-african research consortium Nigeria example.

Background: The Sickle Pan-African Research Consortium (SPARCO) and Sickle Africa Data Coordinating Center (SADaCC) were set up with funding from the US National Institute of Health (NIH) for physicians, scientists, patients, support groups, and statisticians to collaborate to reduce the high disease burden and alleviate the impact of Sickle Cell Disease (SCD) in Africa. For 5years, SPARCO and SADaCC have been collecting basic clinical and demographic data from Nigeria, Tanzania, and Ghana. The resulting database will support analyses to estimate significant clinical events and provide directions for targeting interventions and assessing their impacts. Method: The Nigerian study sited at Centre of Excellence for Sickle Cell Disease Research and Training (CESRTA), University of Abuja, adopted REDCap for online database management. The case report form (CRF) was adapted from 1,400 data elements adopted by SPARCO sites. It captures 215 data elements of interest across sub-sites, i.e., demographic, social, diagnostic, clinical, laboratory, imaging, and others. These were harmonized using the SADaCC data dictionary. REDCap was installed on University of Abuja cloud server at https://www.redcap.uniabuja.edu.ng. Data collected at the sites are sent to CESRTA for collation, cleaning and uploading to the database. Results: 7,767 people living with sickle cell disease were enrolled at 25 health institutions across the six zones in Nigeria with 5,295 having had at least one follow-up visit with their clinical data updated. They range from 44 to 1,180 from 3 centers from South East, 4 from South, 5 from South West, 8 from North Central, 4 in North West and 3 in the North East. North West has registered 1,383 patients, representing 17.8%; North East, 359 (4.6%); North Central, 2,947 (37.9%); South West, 1,609 (20.7%); South, 442 (5.7%) and South East, 1,027 patients (13.2%). Conclusion: The database is being used to support studies including analysis of clinical phenotypes of SCD in Nigeria, and evaluation of Hydroxyurea use in SCD. Reports undergoing review in journals have relied on the ease of data access in REDCap. The database is regularly updated by batch and individual record uploads while we are utilizing REDCap's in-built functions to generate simple statistic.

Hydroxyurea for secondary stroke prevention in children with sickle cell anemia in Nigeria: a randomized controlled trial

AbstractWe tested the hypothesis that fixed oral moderate-dose hydroxyurea (20 mg/kg per day) for initial treatment of secondary stroke prevention results in an 80% relative risk reduction of stroke or death when compared with fixed oral low-dose hydroxyurea (10 mg/kg per day) in a phase 3 double-blind, parallel-group, randomized controlled trial in children with sickle cell anemia (SCA) living in Nigeria. A total of 101 participants were randomly allocated to low-dose (n = 49) and moderate-dose (n = 52) hydroxyurea treatment groups. The median participant follow-up was 1.6 years (interquartile range, 1.0-2.3), with a planned minimum follow-up of 3.0 years. A total of 6 recurrent strokes and 2 deaths vs 5 recurrent strokes and 3 deaths occurred in the low- and moderate-dose groups, respectively. The incidence rate ratio (IRR) of the primary outcome measure of stroke or death in the low- and moderate-dose hydroxyurea treatment groups was 0.98 (95% confidence interval [CI], 0.32-3.00; P = .97). The trial was stopped early owing to no clinical difference in the incidence rates of the primary outcome measure. The incidence rates of recurrent strokes were 7.1 and 6.0 per 100 person-years in the low- and moderate-dose groups, respectively, (IRR, 1.18; 95% CI, 0.30-4.88; P = .74). As a measure of adherence to the oral hydroxyurea therapy, the median percent of returned pills was 3.0% and 2.6% in the low- and moderate-dose groups, respectively. No participant had hydroxyurea therapy stopped for myelosuppression. For children with SCA in low-income settings without access to regular blood transfusion therapy, initial low-dose hydroxyurea is a minimum known efficacious dose for secondary stroke prevention.

Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria.

Background: HemoTypeSC is a rapid, point-of-care testing (POCT) device for sickle cell disease (SCD) that traditionally uses the capillary blood from heel stick collected at the point of testing, a procedure that makes mass screening cumbersome and less cost-effective. Using dried blood spots (DBS) on HemoTypeSC could mitigate this challenge. Therefore, this study aimed to determine the feasibility of eluting blood from DBS to read on HemoTypeSC. Methods: DBS and fresh samples from heel sticks were collected from 511 newborns at the immunization clinics of six Primary Health Centers in Abuja, Nigeria. The two samples from each newborn were analyzed using HemoType SC and then compared with the result of the isoelectric focusing (IEF) test. Results: Of the 511 newborns, 241 were males and 270 were females. Standard HemoTypeSC (using fresh samples collected from heel sticks) and HemoTypeSC using DBS identified 404 (79.0%) HbAA, 100 (19.6%) HbAS, 6 (1.2%) HbSS, and 1 (0.2%) HbAC phenotypes. The IEF tests identified 370 (72.4%) HbAA, 133 (26.0%) HbAS, 5 (1.0%) HbSS, and 3 (0.6%) HbAC phenotypes. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and overall accuracy of HemoTypeSC using DBS, compared to standard HemoTypeSC POCT was 100%. IEF method showed for AA, AS, AC phenotypes; sensitivity; 84.7%, 67%,100% respectively, specificity; 67.6%, 86%, 99% respectively, PPV; 91.2%, 53%, 50% respectively, NPV; 52.7%, 91%, 100% respectively. For SS phenotype, IEF showed 100% specificity, sensitivity, PPV and NPV. Conclusion: HemoTypeSC test using dried blood spot is as accurate as the standard point-of-care HemoTypeSC test. The use of DBS on HemoTypeSC could ensure better efficiency and cost-effectiveness in mass newborn screening for SCD.

Economic burden and catastrophic cost among people living with sickle cell disease, attending a tertiary health institution in south-east zone, Nigeria.

Out-of-pocket spending and lack of adequate health policy support for people living with sickle cell disease in Nigeria may predispose to high economic burden and catastrophic cost. The objective of the study was to evaluate the economic burden and catastrophic cost of sickle cell disease patients in a Nigerian tertiary health institution. In this study, a cross-sectional descriptive survey design was used to study a sample of 149 sickle cell disease patients managed at University of Nigeria Teaching hospital Enugu, South east Nigeria. A structured pre-tested interviewer-administered questionnaire was used to collect primary data from adult participants and caregivers of paediatric patients. Data collection lasted for three months. The major findings were median monthly economic burden of approximately N76, 711 (US$385) per person. Of this, outpatient cost constituted approximately 88%. Admission, drugs and blood transfusion constitute the major contributors to the economic burden experienced by the sickle cell disease patients in the study. All socio-economic status groups suffered catastrophic expenditure but the poorest quartile had the highest incidence: 61% at 40% threshold, 71% at 30% threshold and at 88% at 10% threshold. Conclusion: economic burden was high for sickle cell disease patients who also suffered high catastrophic costs due to the impact of out-of-pocket expenditure. People living with sickle cell disease need financial protection especially for the poorest since they buy from the same market and incur same costs. Policy decision making to assist the sickle cell disease patients cope with cost of care is needful in Nigeria.

Health Risk Behavior of Adolescents with Sickle Cell Disease in Nigeria

Background: The advances in medical practice have increased the average life expectancy of people living with sickle cell disease (SCD) to 54 years. The high prevalence rates of SCD in Nigeria therefore highlights the need for research that will support overall disease management. Objective: To determine the health risk behavior (HRB) of adolescents with sickle cell disease in Nigeria. Materials and methods: In a cross-sectional descriptive survey using purposive sampling method, 122 adolescents with SCD attending sickle cell clubs in Ogun State, Nigeria were selected for the study. A 58-item questionnaire adapted from the Youth Risk Behavior Survey (YRBS) instrument developed by Centre for Disease Control and Prevention (CDC) was used to collect data from the adolescents. Results: The mean age of the respondents was 15.7 ± 2.3 years, there were more females (58.2%) than males (41.2%). Majority were from a monogamous family setting and average to large family size (≥3siblings) (63% and 76% respectively) and only 6% of the parents had no formal education. The mean ages at first sexual intercourse, cigarette smoking and alcohol use were 16 ± 5.7, 15.7 ± 0.7, and 14.9 ± 1.9 years respectively. One-fifth (21.3%) have had sex and half (50%) of them have had sex by the age of 17. Over one-tenth (13.9%) had smoked cigarette while 14.8% had taken alcohol. Adolescents from monogamous family background were more likely to be involved in substance abuse (χ2: 4.99; P=0.008) and exposed to sexual activities (χ2: 10.9; P=0.004) than those from polygamous or single parent family. Conclusion: It was concluded that adolescents with SCD are involved in HRB and may be dependent on family characteristics. It is recommended that regular health care of chronically ill adolescents should include screening and counselling for HRBs.