VO2max & HRQoL in Children With Sickle Cell Disease

Overview

Sickle cell disease is the most common inherited genetic disorder, accounting for 300,000 births worldwide per year. It is caused by an autosomal recessive mutation of the β-globin gene, responsible for an abnormal hemoglobin, the main protein in red blood cells, responsible for transporting oxygen from the lungs to the tissues. The abnormal hemoglobin, known as "Sickle" or S, deforms the red blood cell, causing chronic hemolytic anemia, organ damage (heart, spleen, etc.) and vaso-occlusive crises. Therapeutic progress and specialised patient follow-up have considerably improved the vital and functional prognosis of children and adolescents with sickle cell disease. Physical fitness, measured during a cardiorespiratory exercise test (CPET), is used to determine maximal oxygen uptake (VO2max). Patients with sickle cell disease have a multifactorial limitation of exercise tolerance, which may affect their physical fitness. Authors have shown that VO2max is impaired in children and adolescents with sickle cell disease, independently of their baseline hemoglobin level. Yet VO2max is a key determinant of health-related quality of life (HRQoL) in patients being monitored for a chronic disease. In the past, our team has contributed to the assessment of HRQoL in several groups of pediatric patients suffering from chronic disease (congenital heart disease, PAH). To date, the link between impaired physical fitness and HRQoL has not been demonstrated in sickle cell children. The pathophysiological determinants of reduced physical capacity and exercise tolerance in sickle cell patients have also not been fully elucidated. Studying these factors will enable us to propose appropriate treatment in the future, with the aim of improving physical fitness and HRQoL in children and adolescents with sickle cell disease.

This prospective case-control study included sickle cell children and healthy controls from 6 to 17 years old. Patients refuse the use of medical data will be excluded. After description of the study sample, we will first compare the VO2max Z-score between cases and controls. We will correlate the VO2max to PedsQL self- and proxy-related and Ricci and Gagnon scores (use of the coefficient of correlation rhô). Then we will compare others CPET parameters and will determine associated factors of VO2max with others resting data : hematological, respiratory, cardiologic, anthropometric, educational (use of the coefficient of correlation rhô, and multivariate linear regression model).