Organizing national responses for rare blood disorders: the Italian experience with sickle cell disease in childhood

Abstract

BackgroundSickle cell disease (SCD) is the most frequent hemoglobinopathy worldwide but remains a rare blood disorder in most western countries. Recommendations for standard of care have been produced in the United States, the United Kingdom and France, where this disease is relatively frequent because of earlier immigration from Africa. These recommendations have changed the clinical course of SCD but can be difficult to apply in other contexts. The Italian Association of Pediatric Hematology Oncology (AIEOP) decided to develop a common national response to the rising number of SCD patients in Italy with the following objectives: 1) to create a national working group focused on pediatric SCD, and 2) to develop tailored guidelines for the management of SCD that could be accessed and practiced by those involved in the care of children with SCD in Italy.MethodsGuidelines, adapted to the Italian social context and health system, were developed by 22 pediatric hematologists representing 54 AIEOP centers across Italy. The group met five times for a total of 128 hours in 22 months; documents and opinions were circulated via web.ResultsRecommendations regarding the prevention and treatment of the most relevant complications of SCD in childhood adapted to the Italian context and health system were produced.For each topic, a pathway of diagnosis and care is detailed, and a selection of health management issues crucial to Italy or different from other countries is described (i.e., use of alternatives for infection prophylaxis because of the lack of oral penicillin in Italy).ConclusionsCreating a network of physicians involved in the day-to-day care of children with SCD is feasible in a country where it remains rare. Providing hematologists, primary and secondary care physicians, and caregivers across the country with web-based guidelines for the management of SCD tailored to the Italian context is the first step in building a sustainable response to a rare but emerging childhood blood disorder and in implementing the World Health Organization’s suggestion “to design (and) implement … comprehensive national integrated programs for the prevention and management of SCD".

Burden, genotype and phenotype profiles of adult patients with sickle cell disease in Cape Town, South Africa

“…[33] A similar increasing trend of SCD in countries previously not affec ted by the disease has been observed in Ireland, [34] Italy, [35] Germany, [36] England [37] and France. [38] There fore, the evidence that the SCD burden is comparable to that of communicable diseases and other major global diseases such as hypertension and diabetes [2] will have increasing resonance.…”

Hydroxyurea prescription, availability and use for children with sickle cell disease in Italy: Results of a National Multicenter survey

“…The National Guidelines for the Management of SCD in Childhood in Italy issued by the AIEOP in 2010 in Italian language on the AIEOP website and published in 2013 strongly recommend HU treatment for specific disease complications, but knowledge about SCD treatment among pediatricians is still limited and data regarding the usage of HU for children with SCD in our country are lacking. Moreover, the only formulation available in Italy is the 500 mg capsule, not divisible, limiting its use, especially in the lower age group of children.…”

HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype‐phenotype correlation

“…Antibiotic prophylaxis is the standard of care for SCD, and the safety and efficacy of HU have been well established also in pediatric patients . Antibiotic prophylaxis was administered to 26 of 41 patients (63.4%) while 8 of 41 patients (19.5%) were taking HU.…”

“…The frequency of different genetic variants is rapidly increasing in European countries due to the rising number of people migrating from different regions of the Mediterranean area (Africa, Balkan, Middle East). This resulted in the introduction of new genetic profiles in Europe, with consequent need for dedicated guidelines tailored to each specific country . HbS/β° thalassemia is characterized by the absence of HbA with a clinical presentation that resembles that of the homozygous SS sickle cell disease.…”