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

Orphanet Journal of Rare Diseases

Giovanna Russo³  Laura Sainati⁵  Giovanni Palazzi¹  Nicoletta Masera²  Maddalena Casale⁴  Piera Samperi³  Silverio Perrotta⁴  Raffaella Colombatti⁵ 

[1]Dipartimento di Pediatria, Università di Modena e Reggio Emilia, via del Pozzo 71, 41100, Modena, Italy

[2]Dipartimento di Pediatria, Ospedale San Gerardo, Via Pergolesi 33, 20052, Monza, Italy

[3]Unità di Ematologia ed Oncologia Pediatrica, Dipartimento di Pediatria, Università di Catania, Via Santa Sofia 78, Catania 95123, Italy

[4]Dipartimento della Donna, del Bambino e della Chirurgia Generale e Specialistica, Seconda Università di Napoli, Via L. De Crecchio, 2, 80138, Napoli, Italia

[5]Clinica di Onco-Ematologia Pediatrica, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera-Università di Padova, Via Giustiniani 3, 35128, Padova, Italy

关键词: Health education;    Rare blood disorder;    Child;    Sickle cell disease;   

Others  :  863452
DOI  :  10.1186/1750-1172-8-169

 received in 2013-07-04, accepted in 2013-10-09,  发布年份 2013

【 摘 要 】

Background

Sickle 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.

Methods

Guidelines, 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.

Results

Recommendations 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).

Conclusions

Creating 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".

【 授权许可】

   
2013 Colombatti et al.; licensee BioMed Central Ltd.

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