Sindromi drepanocitiche: studio di fattibilità di strategie di prevenzione e rimodellamento della rete assistenziale in un contesto in evoluzione
type: CreativeWork
description: Sickle cell disease (SCD) is the first genetic disease in the world and remains largely ignored by the population but also by health professionals. SCD is characterized by a variable clinical expression; however most of the patients are at risk to develop acute and severe complications conducting to a fatal issue. Reliable and accurate epidemiological data is a prerequisite for a cost effective prevention program for inherited disorders, which however, is lacking in a number of developing countries. Here we report the first detailed population study in the Piedmont region, north-west Italy, designed to estimate the frequency and distribution of patients with sickle cell disease, annual number of patients newly diagnosed as having SCD, proportion of the patients receiving a regular care in a comprehensive care setting. This study analyzes the adequacy between the services offered for these patients and the real need in this Italian country. OBJECTIVE: The purpose is to estimate the prevalence of sickle cell disease in the Piedmont region and the need for prevention strategies, to evaluate the feasibility of neonatal screening and to propose a realistic healthcare program. METHODS: The estimate of the SCD prevalence changes between January 1978 and December 2011 in the Piedmont region was based on three regional data sources. All consecutive patients with SCD laboratoristic diagnosis were included and specialistic care was offered. For all patients, the demographic and clinical features and the circumstances of SCD diagnosis were described. The next step was to analyse the current prevention and healthcare program in this country and to evaluate the feasibility of a new specific cost effective program and to improve management of sickle cell disease through early parental education and the institution of prophylaxis against infection. RESULTS: According to information obtained from the regional sources, our results indicate that the prevalence of SCD population was 0,…
abstract: Sickle cell disease (SCD) is the first genetic disease in the world and remains largely ignored by the population but also by health professionals. SCD is characterized by a variable clinical expression; however most of the patients are at risk to develop acute and severe complications conducting to a fatal issue. Reliable and accurate epidemiological data is a prerequisite for a cost effective prevention program for inherited disorders, which however, is lacking in a number of developing countries. Here we report the first detailed population study in the Piedmont region, north-west Italy, designed to estimate the frequency and distribution of patients with sickle cell disease, annual number of patients newly diagnosed as having SCD, proportion of the patients receiving a regular care in a comprehensive care setting. This study analyzes the adequacy between the services offered for these patients and the real need in this Italian country. OBJECTIVE: The purpose is to estimate the prevalence of sickle cell disease in the Piedmont region and the need for prevention strategies, to evaluate the feasibility of neonatal screening and to propose a realistic healthcare program. METHODS: The estimate of the SCD prevalence changes between January 1978 and December 2011 in the Piedmont region was based on three regional data sources. All consecutive patients with SCD laboratoristic diagnosis were included and specialistic care was offered. For all patients, the demographic and clinical features and the circumstances of SCD diagnosis were described. The next step was to analyse the current prevention and healthcare program in this country and to evaluate the feasibility of a new specific cost effective program and to improve management of sickle cell disease through early parental education and the institution of prophylaxis against infection. RESULTS: According to information obtained from the regional sources, our results indicate that the prevalence of SCD population was 0,…
author: ROGGERO, SIMONA
language: ita
keywords: Sickle cell disease, epidemiology, newborn screening, Settore MED/38 - Pediatria Generale e Specialistica
date published: 2012-03-08
date modified: 2026-07-24T01:30:03Z
provider: Università di Cagliari
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Università degli Studi di Cagliari

PropertyValue
property ID: Handle
value: http://hdl.handle.net/11584/266068