WORLD SICKLE CELL DAY
World Sickle Cell Day promotes awareness, early diagnosis, prevention and research to improve patient care and tackle misinformation surrounding one of the most common inherited rare blood disorders. To mark the occasion, Fondazione Gianni Benzi created short videos exploring the mechanisms of sickle cell disease, the challenges of everyday life and the new opportunities offered by therapeutic innovation.
UNDERSTANDING THE DISEASE
How does sickle cell disease develop? What happens when haemoglobin is altered and red blood cells take on their characteristic sickle shape? In these short videos, we explore the genetics of the condition, its symptoms, vaso-occlusive crises, organ complications and the crucial role of early diagnosis and specialist care.
Sickle Cell Disease: what is it?
An introduction to the key concepts of sickle cell disease: an inherited blood disorder caused by a haemoglobin mutation, passed down genetically and present from birth
Sickle Cell Disease: what happens in the body?
A closer look at the biological mechanisms underlying the condition: from haemoglobin S and the deformation of red blood cells to reduced oxygen delivery and the main disease-related complications.
Pain crisis: when does pain become a medical emergency?
Vaso-occlusive crises are one of the hallmark features of sickle cell disease. This video explains how they occur, which factors may trigger them and when urgent medical attention is needed.
Sickle Cell Disease: more than meets the eye
Sickle cell disease is not only about pain. It can affect multiple organs and have a significant impact on overall health, with consequences that are often invisible but require ongoing monitoring.
Sickle Cell Disease: how is the condition monitored?
Regular check-ups, laboratory tests, infection prevention and multidisciplinary follow-up are essential to reduce the risk of complications and improve long-term quality of life.
LIVING WITH SICKLE CELL DISEASE
Living with a chronic condition means facing not only clinical challenges but also psychological, family and social issues. This section highlights the importance of screening, genetic counselling and tackling stigma, helping to promote awareness, inclusion and a better quality of life.
A simple test can make a difference: screening and early diagnosis
From carrier screening to newborn screening, early diagnosis is a key tool for planning care pathways and preventing serious complications.
Sickle Cell Disease and stigma: the invisible challenges
Chronic pain, fatigue and frequent hospital admissions can have a profound psychological and social impact. This video explores the burden of stigma and the importance of increasing public understanding of the condition.
RESEARCH AND INNOVATION
New medicines, advanced therapies and precision medicine are reshaping the future for people living with sickle cell disease. These videos provide an insight into the latest scientific advances, from innovative treatments to the opportunities offered by gene therapy and gene editing.
New Treatments: is Sickle Cell Disease managed only with painkillers and blood transfusions?
From hydroxyurea to emerging therapies under development, the treatment landscape is evolving with the aim of reducing vaso-occlusive crises, hospitalisations and organ damage.
Bone marrow transplantation: can Sickle Cell Disease really be cured?
Haematopoietic stem cell transplantation is currently a potentially curative option for some patients. This video explains how it works, its benefits, limitations and eligibility criteria.
Gene therapy for Sickle Cell Disease
Gene editing, CRISPR-Cas9 and fetal haemoglobin: a straightforward explanation of how gene therapy strategies aim to address the underlying genetic cause of the disease.
New therapies for Sickle Cell disease: how can patients access them?
Specialist centres, clinical trials, expert networks and the role of patient organisations: an overview of the pathways that enable access to innovative treatments and personalised medicine.