Estudio de la cohorte de pacientes con enfermedad de células falciformes diagnosticados tras la implantación del cribado neonatal en la Comunidad de Madrid

Abstract

Newborn screening for Sickle Cell Disease (SCD) allows to make an early diagnosis, giving the chance to start earlier the prophylactic penicillin treatment, reinforce the vaccination and perform family health education. In recent decades, it has been incorporated as part of neonatal screening programs in some European countries. In the Community of Madrid (CM), a pilot study between 1999 and 2000 found that the birth prevalence of patients with hemoglobin (Hb) FS at birth was 1/5851 newborns (NB), higher than expected, so it was decided to deploy the program. In order to implement it, a linkage was established between the Newborn Screening Laboratory and the Reference Clinical Unit, the Pediatric Hematology Consultation at the Gregorio Marañón General University Hospital. In May 2003, the CM, at the request of the Institute of Public Health, was the first Autonomous Community to establish universal newborn screening for SCD in Spain. Goals: The study is going through two main objectives: the first one is to evaluate the newborn screening program for SCD in the CM in the last 15 years and, the second one is to study the morbidity and mortality of patients that were diagnosed during that period. The study also answers some secondary objectives such as the need to know the newborn SCD prevalence in the CM, to describe the features of patients in the Madrid newborn cohort and to analyze the primary and secondary stroke prevention in those patients with a more severe phenotype (HbSS/Hbβ0)...