Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder. Understanding the pathogenesis and pathophysiology of the disorder is central to the choice of therapeutic development and intervention. In this special edition for newborn screening for haemoglobin disorders, it is pertinent to describe the genetic, pathologic and clinical presentation of sickle cell disease as a prelude to the justification for screening. Through a systematic review of the literature using search terms relating to SCD up till 2019, we identified relevant descriptive publications for inclusion. The scope of this review is mainly an overview of the clinical features of pain, the cardinal symptom in SCD, which present following the drop in foetal haemoglobin as young as five to six months after birth. The relative impact of haemolysis and small-vessel occlusive pathology remains controversial, a combination of features probably contribute to the different pathologies. We also provide an overview of emerging therapies in SCD.

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.

Background: Sickle cell disease (SCD) patients have increased susceptibility to infections, particularly encapsulated bacterial pathogens such as Streptococcus pneumoniae and Haemophilus influenzae type b. Hyposplenism as well as immune defects in SCD result in increased risks for infections; these are the most frequent complications in individuals with SCD. This study was performed within the African Research and Innovative initiative for Sickle cell Education (ARISE, EC GA No 824021) project to develop best practices in the clinical management of SCD. In this retrospective study we aimed to determine the most prevalent reported infections among SCD patients’ records during clinic visits at Ahmadu Bello University Teaching Hospital, Zaria, Nigeria. Methods: The medical records of 1961 paediatric SCD patients from 1998 to 2023 were extracted and reviewed from a pilot electronic registry using a structural query. The data analysed patterns of infections reported during clinic visits at the ABUTH, Zaria, Nigeria. Results: 458 subjects (23.4%) manifesting at least one infection, of whom 392 (19.9%) subjects had a single infection (bacterial or parasitic) and 173 (8.8%) had more than one infection (bacterial and parasitic). Conclusions: Bacterial and parasitic infections are a significant complication of SCD patients attending a tertiary institution in northern Nigeria.

Objective: Sickle cell disease (SCD) is one of the most common inherited haemoglobinopathies worldwide and the most prevalent monogenic disorder in the UK. Real-world implementation of existing guidance remains variable particularly in emergency and community settings. The study aims to build national consensus among multidisciplinary stakeholders as a crucial first step towards standardising practice and improving outcomes. Design: Using a single-round modified Delphi methodology, a Steering Committee of six UK-based specialists identified key domains for discussion and generated 48 consensus statements relevant to the care of patients with SCD. Using a four-point Likert scale, a survey including all statements was disseminated among a wider audience of healthcare professionals (HCPs) to determine agreement. The threshold for agreement was set at ≥75%. Eligible participants for this study included National Health Service (NHS) haematologists (adult or paediatric) and clinical or community nurse specialists from across the UK. Results: In total, 112 completed surveys were received. Consensus (≥75% agreement) was achieved for 46 of 48 statements (96%), including 32 (67%) that reached ≥90% agreement. The strongest consensus (>95%) was observed in statements emphasising the need for: broader access to specialist clinics and multidisciplinary care, prioritisation of community-based management and prevention of end-organ damage, education of emergency department staff on acute SCD management and improved HCP understanding of the multisystem nature of SCD and its psychosocial impacts. Two statements (S37, S43) did not meet the threshold, both concerning variability in adherence to national guidelines and allocation of dedicated SCD funding. Conclusions: A modified Delphi consensus achieved national multidisciplinary team expert recommendations to optimise NHS SCD care. These recommendations use expert opinion to clarify priorities, identify resource and education gaps, and aim to standardise practice for consistent, high-level patient care and robust outcome assessment.