[Sickle cell disease, 2025]

Area of Science:

• Hematology
• Genetics
• Public Health

Background:

• Sickle cell disease (SCD) homozygotes face severe health risks, including vaso-occlusive events and infections, surpassing other hemoglobinopathies.
• SCD reduces life expectancy by approximately 20 years in affected Afro-Americans and presents with early cardiovascular/cerebrovascular events, vaso-occlusive crises, and hypo-asplenia.
• The disease is prevalent in Sub-Saharan Africa and the USA, requiring complex, multidisciplinary care often centered in specialized facilities.

Purpose of the Study:

• To highlight the significant health burdens and complications associated with sickle cell disease.
• To emphasize the need for specialized, multidisciplinary medical care for sickle cell disease patients.
• To discuss the potential of innovative therapies, including gene modification, in improving outcomes for sickle cell disease.

Main Methods:

• Review of existing literature on sickle cell disease manifestations and management.
• Analysis of epidemiological data regarding sickle cell disease incidence and survival rates.
• Evaluation of current and emerging therapeutic strategies for sickle cell disease.

Main Results:

• Sickle cell disease patients experience a significantly shortened lifespan and a higher incidence of severe complications.
• Hematological manifestations include early cerebrovascular and cardiovascular events, vaso-occlusive crises, and increased susceptibility to infections.
• Innovative treatments, such as gene modification, show promise in enhancing survival and quality of life.

Conclusions:

• Sickle cell disease necessitates expert, multidisciplinary care due to its complexity and severe health implications.
• Early intervention and comprehensive management are crucial for mitigating complications and improving patient outcomes.
• Advancements in therapies like gene modification represent a significant step forward in managing sickle cell disease and improving long-term prognosis.