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The implementation of screening programs for early detection of patients with sickle cell disease has become necessary in Italy as a result of the high rate of migration from areas with a high prevalence of the disease (Sub-Saharan Africa, Middle East and the Balkans). Following a pilot study performed in the province of Modena, Italy in 2011-2013, an official screening program was established on May 31 2014 for all pregnant women, free-of-charge for the family according to the National Guidelines for Physiological Pregnancy. Hemoglobin (Hb) profiles of pregnant women within 10 weeks of pregnancy, of new mothers at delivery and of the newborns of mothers with variant Hb profiles (newborns at-risk), were evaluated by high performance liquid chromatography (HPLC). Samples from 17,077 new mothers were analyzed and 993 showed alteration of Hb patterns (5.8%) (1.0% Hb AS carriers); of the 1011 at-risk newborns, four (0.4%) carried sickle cell disease and 90 (8.9%) were Hb AS carriers. These data show that early diagnosis of sickle cell disease or carrier status can be obtained in high-risk newborns, providing valuable information on the frequency of these conditions in geographic areas in which the disease is historically rare.
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http://dx.doi.org/10.1080/03630269.2017.1405820 | DOI Listing |
Public Health Genomics
September 2025
Introduction Deliberative democracy is an inclusionary approach to reaching consensus decision-making through participative and representative engagement. The Democratizing Education for Sickle Cell Disease Gene Therapy Project used a deliberative community engagement model to partner with patient advocacy and research community members within the field of sickle cell disease (SCD) gene therapy to create new, accessible patient education materials (PEMs) about SCD gene therapy. Objective Develop PEMs for sickle cell disease gene therapy and study the process of deliberative community engaged research Methods A study of the experiences of a multi-disciplinary group of participants including patients, patient advocates, health professionals, gene therapy researchers, industry and government members using a deliberative community engagement model to develop new PEMs.
View Article and Find Full Text PDFEur J Pediatr
September 2025
Paediatric Pain and Palliative Care Service, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.
Purpose: This study aimed to describe the structure, patient characteristics, and preliminary clinical outcomes of a dedicated interdisciplinary outpatient clinic for paediatric chronic and complex pain in Italy, with a focus on the feasibility of implementing a biopsychosocial care model.
Methods: We conducted a retrospective review of all patients referred to the Paediatric Specialised Pain Clinic of the University of Padua between January 2023 and May 2024. Data on demographics, clinical diagnoses, pain characteristics, treatments, and follow-up outcomes were collected.
Rev Med Interne
September 2025
Service d'hématologie biologique, CHU d'Amiens-Picardie, Amiens, France; HEMATIM UR4666, université Picardie Jules-Verne, Amiens, France.
The diagnosis of hemolysis is still based on straightforward biochemical parameters: haptoglobin (the most sensitive), lactate dehydrogenase (LDH), and unconjugated bilirubin. Anemia is not always present. Reticulocyte counts typically exceed 120×10/L, except in cases of associated vitamin deficiency or during the very early phase of acute hemolysis.
View Article and Find Full Text PDFRev Med Interne
September 2025
Service de médecine interne, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, 86000 Poitiers, France; Université de médecine et de pharmacie, université de Poitiers, Poitiers, France; Inserm U1313, université de Poitiers, Poitiers, France.
Introduction: Many women of childbearing age are being treated for chronic conditions that require long-term medication. We assessed the knowledge of women being treated in internal medicine and clinical immunology, regarding the impact of their disease and specific treatments on a potential pregnancy.
Methods: Between September 1st, 2019, and November 1st, 2020, in four hospitals in the Poitou-Charentes region, a questionnaire was given to every woman aged 18 to 44 who came in for an internal medicine and clinical immunology consultation for the follow-up of a chronic systemic disease.
Orthop Traumatol Surg Res
September 2025
Service de Chirurgie Orthopédique Pédiatrique, Hôpital Universitaire Robert-Debré, Assistance Publique-Hôpitaux de Paris (AP-HP), Université de Paris, 48 Boulevard Sérurier, 75019 Paris, France.
Sickle cell disease is the most common serious genetic disease in the world. It is a systemic disease, characterized by vaso-occlusive phenomena, especially in the bone capillary network. Orthopedic complications are thus the most common, with a strong impact on quality of life.
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