Population drépanocytaire adulte suivie dans un centre de référence des maladies du globule rouge : étude transversale descriptive 2017 – 2018 – CHU La Timone Marseille

Abstract : Introduction: Sickle cell disease is a genetic disease of the red blood cell. It is the result of different mutations in the beta chain (β) of hemoglobin. When both alleles of the gene encoding the hemoglobin beta chain (chromosome 11) are affected, the patient develops a major sickle cell syndrome, the clinical and biological expression of which varies with the type of mutation. The objective is to make an inventory of the population of sickle cell patients followed in the internal medicine department of the Timone University Hospital. We will study their epidemiological characteristics, history, complications, treatments and follow-up. We will compare the subgroups of major sickle cell syndromes. We will focus on the severity of patients according to their age, pediatric management and biological parameters. Methods: This is a retrospective descriptive monocentric observational observational epidemiological study of sickle cell patients regularly monitored in the internal medicine department of the Timone University Hospital. It concerns the years 2017 and 2018. Results: 197 patients were analyzed and data available in 2017 or 2018 for 154 patients: 110 women (55.8%) and 87 men (44.2%). The average age is 34.7 years, the median age 34 years, with extreme ages ranging from 16 to 61 years. 112 (58%) are HbSS, 33 (17%) are HbSC, 25 (13%) are HbS° and 22 (12%) are HbS+. Patients in the HbSS + HbS° group are 84 (70%) treated with hydroxyurea (HU) and those in the HbSC + HbS+ group are 11 (25%). OR = 2.8; IC95[1.656 - 4.733]; p < 0.001. 21 patients (13.6%) have chronic renal failure (CKD). 84 patients (58.7%) have glomerular hyperfiltration. Patients in the HbSS + HbS° group are significantly more likely to have splenectomy, acute chest syndrome, glomerular hyperfiltration, hemochromatosis, cholecystectomy. Patients in the HbSC + HbS+ group are significantly more at risk of developing hyperviscosity syndrome, hearing loss, dizziness, tinnitus, retinopathy. Discussion: This study can be used as a benchmark for cohorts of patients cared for in countries with high health and economic levels. It allowed a review of all the files, the creation of a database and the establishment of an individual list of missing examinations, or modifications of care to be established. Our results are largely consistent with the data provided in the recent literature. They remind us of the difference in phenotype of sickle cell patients according to their type of hemoglobin, and the need for management and follow-up adapted to each of them. Conclusion: This study reviews the situation of the adult sickle cell population monitored in the Adult Reference Centre for Major Sickle Cell Syndromes, Thalassemias and Other Rare Diseases of the Red Blood Cell and Erythropoiesis of Marseille (CHU Timone) in 2017 and 2018. It provides an interesting basis for a better overall knowledge of these patients, as well as for comparison with other cohorts of countries with high health standards. It has allowed us to criticize and improve our practices. It is a founding element for the development of future studies and in particular the implementation of a prospective cohort study of sickle cell aging.
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Benoit Meunier. Population drépanocytaire adulte suivie dans un centre de référence des maladies du globule rouge : étude transversale descriptive 2017 – 2018 – CHU La Timone Marseille. Sciences du Vivant [q-bio]. 2019. ⟨dumas-02171854⟩

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