RESUMEN
Sickle cell disease (SCD) is one of the most common genetic causes of illness and death in the world. This is a review of SCD in Africa, which bears the highest burden of disease. The first section provides an introduction to the molecular basis of SCD and the pathophysiological mechanism of selected clinical events. The second section discusses the epidemiology of the disease (prevalence, morbidity, and mortality), at global level and within Africa. The third section discusses the laboratory diagnosis and management of SCD, emphasizing strategies that been have proven to be effective in areas with limited resources. Throughout the review, specific activities that require evidence to guide healthcare in Africa, as well as strategic areas for further research, will be highlighted.
Asunto(s)
Anemia de Células Falciformes/epidemiología , África/epidemiología , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/terapia , Transfusión Sanguínea , Humanos , Hidroxiurea/uso terapéutico , Morbilidad , Mortalidad , Programas Nacionales de Salud , Óxido Nítrico/uso terapéutico , Dolor , Prevalencia , Trasplante de Células MadreRESUMEN
AIM: To compare pulse oximetry in children with sickle cell anaemia (SCA) and controls and test the hypothesis that vitamin C deficiency (VCD; <11.4 µmol/L) is associated with nocturnal haemoglobin oxygen desaturation in SCA. METHODS: We undertook nocturnal and daytime pulse oximetry in 23 children with SCA (median age 8 years) with known steady-state plasma vitamin C concentrations and 18 siblings (median 7 years). RESULTS: Median nocturnal delta 12 s index (delta12 s), a measure of haemoglobin oxygen saturation (SpO(2)) variability, was 0.38 (interquartile range 0.28-0.51) in SCA and 0.35 (0.23-0.48) in controls, with 9/23 and 6/18, respectively, having a delta12 s >0.4, compatible with obstructive sleep apnoea (OSA). Eleven of twenty-three with SCA had VCD; logged vitamin C concentrations showed a 66% decrease per 0.1 unit increase in delta12 s ([95% CI -86%, -15%]; p=0.023) and delta12 s >0.4 was associated with VCD (odds ratio 8.75 [1.24-61.7], p=0.029). Daytime and mean nocturnal SpO(2) were lower in SCA but there was no association with vitamin C. CONCLUSION: Obstructive sleep apnoea (OSA), detected from nocturnal haemoglobin oxygen saturation variability, is common in Tanzanian children and associated with vitamin C Deficiency in SCA. The direction of causality could be determined by comparing OSA treatment with vitamin C supplementation.