Search Results (3)

Background: Sickle cell disease (SCD) is an autosomal recessive haemoglobin disorder, affecting about 7.74 million individuals worldwide, but it is more prevalent among Africans and Asians. SCD is characterised by many complications, and it is a major health issue in Nigeria, the country with the largest burden of the disease globally. This work aims to present the design and implementation of electronic registries (ER) for SCD in a tertiary hospital in Nigeria. Methods: Registry design was initiated during a staff exchange programme within the ARISE initiative (EU grant agreement no. 824021). Ethical approval was obtained, and paper records were retrieved and transferred into one adult and one paediatric database, developed with Microsoft Access. Results: Data from 2659 SCD patients were entered in the ERs, including 698 (26.3%) adults and 1961 (73.7%) children. There were 287 (41%) male adults, 404 (58%) female and 7 (1%) patients whose gender was missing. There were 1041 (53.1%) male children, 906 (46.2%) female and 14 (0.7%) whose gender was missing. Information on phenotype was available for 2385 subjects, and most of them (2082, 87.3%) were SS. The most prevalent SCD-related complication was painful events (26.6% in adults and 68.7% in children, considering valid cases). Conclusions: About 60% of SCD patients in the centre were included in the ERs providing useful, hands-on recommendations for future ER design in SCD. These ERs might be an appropriate tool for collecting and analysing SCD patients’ data. Full article

Background: Effective stroke prevention in sickle cell disease (SCD) is recommended for children with sickle cell anaemia. Effective implementation relies on the correct stratification of stroke risk using Transcranial Doppler Ultrasound (TCD), prior to committing children to long-term treatment with transfusion. Nevertheless, less than 50% of children with SCD in Europe receive annual TCD—one of the reasons being a lack of trained personnel. The present European multi-centre study was designed to promote the standardisation and delivery of effective screening. Methods: Fifty-five practitioners from differing professional backgrounds were recruited to the TCD training program. The impact of the training programme was evaluated in three European haematology clinics by comparing stroke risk classification and middle cerebral artery time-averaged maximum velocity (TAMMV) obtained from a cohort of 555 patients, before and after training. Results: 42% (23/55) of trainees successfully completed the program. The TAMMV, used to predict stroke risk at each Centre, demonstrated the highest values in Centre 3 (p < 0.0001) before training. The imaging-TCD TAMMV was also higher in Centre 3 (p < 0.001). Following training, the TAMMV showed closer agreement between centres for both imaging-TCD and non-imaging TCD. The stroke risk distribution of children at each centre varied significantly before training (p < 0.001), but improved after training (Fisher’s Exact: no treatment = 5.6, p = 0.41, treatment = 13.8, p < 0.01). The same consistency in stroke risk distribution following training was demonstrated with both non-imaging and imaging-TCD data. Conclusion: The attainment of competency in stroke screening using transcranial Doppler scanning (TCD) in sickle cell disease is more feasible for professionals with an ultrasound imaging background. A quality assurance (QA) system is required to ensure that standards are maintained. Further work is in progress to develop an achievable and reproducible QA program. Full article

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. Full article