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ENERCA clinical recommendations for sickle cell disease management and prevention in children

ENERCA is a European Network for Rare and Congenital Anaemias funded by the European Commission and coordinated by IDIBAPS - Hospital Clnic of Barcelona. Its main purpose is offering an improved public health service to medical practitioners and patients in every aspect of rare anaemias. Recently this year this network published in the American Journal of Hematology (AJH) a series of recommendations for disease management and prevention of complications of sickle cell disease (SCD) in children. With this of publication ENERCA is willing to give clinical guidance to professional medical practitioners through medical literature.

The article is divided in three main issues: Prevention of complications, treatment and therapies for acute disease. Different aspects of each issue are exposed through the text, including the recommendations and historical references about the discovery of scientific evidence related to them. The conclusions are presented in a direct and schematic style. You can read the full text article at the magazines website.

Universal neonatal screening is the only way to detect all the sickle cell disease cases, but it is only performed in the United States, England, the Netherlands, and several cities in Belgium, with selective screening targeted on "high-risk" population in France. According to the ENERCA article, newborns diagnosed with a major sickle cell syndrome should be referred to a designated pediatric sickle cell centre where the care of the baby will be organized. Parents should be informed by an expert physician or in the community by an experienced nurse counselor.

Two preventive tools are the prophylaxis with penicillin to prevent infections and transcranial Doppler scanning to identify children with an augmented risk of suffering a stroke and include them in a transfusion program. Education and psychological support, as well as a yearly checkup, will lead to a better management of the SCD.

Pain, acute chest syndrome, infections, acute anemia and stroke may complicate the course of the disease. These complications may occur together and be difficult to disentangle, a painful crisis frequently causing fever for instance. Guidance for a correct identification of the problem and a proper use of treatments is detailed in the article.

Finally, transplantation of hematopoietic stem cells from HLA-identical siblings is the only curative therapy for SCD. Ovarian tissue can be cryopreserved but it is still unclear how useful this can be in allowing future pregnancies. In conclusion, when transplantation is not an option Hydroxyurea and chronic transfusion are the main therapeutic lines. The ENERCA article discusses the correct application of treatments and some possible side effects to help professionals to define the better possible treatment for every patient.

This guideline is the first one of a series of ENERCA documents focussed on diagnosis and clinical management of sickle cell disease. The first author of the article is Dr. Mariane de Montalembert, from Hpital Necker-Enfants Malades and Universit Paris Descartes (France), who coordinated this publication. The work is part of the ENERCA Workpackage Public health issues and clinical management of patients with Sickle cell anaemia, leaded by Dr. Beatrice Gulbis, from Hpital Erasme (Brussels, Belgium).


Contact: lex Argem
IDIBAPS - Institut d'Investigacions Biomdiques August Pi i Sunyer

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