Sickle cell disease (SCD) is a common condition within sub-Saharan Africa and associated with high under-5 mortality (U5M). The American Society of Hematology instituted the Consortium on Newborn Screening in Africa (CONSA) for SCD, a 7-country network of sites to implement standardized newborn hemoglobinopathy screening and early intervention for children with SCD in sub-Saharan Africa. CONSA’s overall hypothesis is that early infant SCD screening and entry into standardized, continuous care will reduce U5M compared with historical estimates in the region. Primary trial objectives are to determine the population-based birth incidence of SCD and effectiveness of early standardized care for preventing early mortality consortium-wide at each country’s site(s). Secondary objectives are to establish universal screening and early interventions for SCD within clinical networks of CONSA partners and assess trial implementation. Outcomes will be evaluated from data collected using a shared patient registry. Standardized trial procedures will be implemented among designated birth populations in 7 African countries whose programs met eligibility criteria. Treatment protocol includes administering antibacterial and antimalarial prophylaxis and standard childhood vaccinations against infections commonly affecting children with SCD. Infants with a positive screen and confirmation of SCD within the catchment areas defined by each consortium partner will be enrolled in the clinical intervention protocol and followed regularly until age of 5 years. Effectiveness of these early interventions, along with culturally appropriate family education and counseling, will be evaluated by comparing U5M in the enrolled cohort to estimated preprogram data. Here, we describe the methodology planned for this trial.

The World Health Organisation (WHO) classifies myeloproliferative neoplasm (MPN) into BCR-ABL positive chronic myeloid leukaemia (CML Ph ⁺ ) and Ph⁻ MPN. The JAK2 V617F mutation is specific for Ph⁻ MPN and occurs in approximately 50% of primary myelofibrosis. Earlier reports suggest that the occurrence of JAK2 and BCR-ABL mutations are mutually exclusive. However, recent reports have documented the coexistence of BCR-ABL and JAK2 mutation in the same patient mostly following treatment with tyrosine kinase inhibitors (TKIs). We thus report a 60-year-old male with atypical clinical and laboratory features of MPN and the presence of both BCR-ABL and JAK2 Mutations.

Background: Chronic Leg Ulcers (CLU) are common cutaneous manifestation of sickle cell disease (SCD) and a major cause of debility. CLU results from vaso-occlusion, poor venous pressure, hypercoagulabilty and trauma. The incidence of CLU is variable based on geographical region. Treatment modalities include debridement and skin grafting. The aim of this study was to determine the prevalence, incidence, hematological parameters and treatment modalities of CLU among SCD patients in Ahmadu Bello University Teaching Hospital (ABUTH) Zaria. Patients and Methods: It was a retrospective study of adult SCD patients between January-December 2012 at ABUTH Zaria. Case notes of SCD patients were retrieved and data on socio-demographics, hematological parameters and CLU were extracted and analyzed using Epi Info. Data was analysed using descriptive analysis and comparisom of mean by student's t-test. Results: Of the 446 SCD patients attended to during the study period 14 had CLU. The incidence of CLU was 0.45% among the SCD patients studied. The male to female ratio was (M: F = 1.3:1). CLU occurs commonly around the malleoli in 78.6% whereas other sites constituted 21.4%. In 77.8% of CLU low steady state PCV was seen, 76.9% had reticulocytosis whereas 81.8% had high platelet count > 477 × 10⁹/l. Recurrence rate was 78.5% with osteomyelitis (16.7%) and limitation of movement (16.7%) as a frequent complications of CLU. Wound debridement and dressing was the commonest surgical management option but with a high recurrence rate. Conclusion: Prevalence of CLU is low in SCD patients in Zaria; occurring commonly in patients with low steady state PCV, reticulocytosis and thrombocytosis. Debridement and skin grafting has good cure rate and lower recurrence of CLU.

Introduction: Lung function abnormalities are common in sickle cell anaemia (SCA) but data from sub-Saharan Africa are limited. We hypothesised that children with SCA from West Africa had worse lung function than their counterparts from Europe.Methods: This prospective cross-sectional study evaluated spirometry and anthropometry in black African individuals with SCA (haemoglobin phenotype SS) aged 6–18 years from Nigeria and the UK, when clinically stable. Age-matched controls were also included in Nigeria to validate the Global Lung Initiative spirometry reference values.Results: Nigerian SCA patients (n=154) had significant reductions in both FEV₁ and FVC of ~1 z-score compared with local controls (n=364) and ~0.5 z-scores compared with the UK patients (n=101). Wasting (body mass index z-score<−2) had a prevalence of 27% in Nigerian patients and 7% in the UK ones (p<0.001). Among children with SCA, being resident in Nigeria (OR 2.4, 95% CI 1.1 to 4.9), wasting (OR 2.3, 95% CI 1.1 to 5.0) and each additional year of age (OR 1.2, 95% CI 1.1 to 1.4) were independently associated with increased risk of restrictive spirometry (FVC z-score<−1.64+FEV₁/FVC≥−1.64).Conclusions: This study showed that chronic respiratory impairment is more severe in children with SCA from West Africa than Europe. Our findings suggest the utility of implementing respiratory assessment in African children with SCA to early identify those with chronic lung injury, eligible for closer follow-up and more aggressive therapies.

Background: Sickle Cell Disease (SCD) has been designated by WHO as a public health problem in sub-Saharan Africa, and the development of newborn screening (NBS) is crucial to the reduction of high SCD morbidity and mortality. Strategies from the field of implementation science can be useful for supporting the translation of NBS evidence from high income countries to the unique cultural context of sub-Saharan Africa. One such strategy is community engagement at all levels of the healthcare system, and a widely-used implementation science framework, “Getting to Outcomes^®” (GTO), which incorporates continuous multilevel evaluation by stakeholders about the quality of the implementation. Objectives: (1) to obtain critical information on potential barriers to NBS in the disparate ethnic groups and settings (rural and urban) in the healthcare system of Kaduna State in Nigeria; and, (2) to assist in the readiness assessment of Kaduna in the implementation of a sustainable NBS programme for SCD. Methods: Needs assessment was conducted with stakeholder focus groups for two days in Kaduna state, Nigeria, in November 2017. Results: The two-day focus group workshop had a total of 52 participants. Asking and answering the 10 GTO accountability questions provided a structured format to understand strengths and weaknesses in implementation. For example, we found a major communication gap between policy-makers and user groups. Conclusion: In a two-day community engagement workshop, stakeholders worked successfully together to address SCD issues, to engage with each other, to share knowledge, and to prepare to build NBS for SCD in the existing healthcare system.