Breakthrough Clinical Results
Fifty1 AI Labs, in collaboration with The Gates Foundation and leading universities, has completed the largest-ever study of Sickle Cell Disease (SCD). Utilizing a decade of real-world patient data and AI-driven analytics, the study provides an unprecedented understanding of SCD progression and treatment outcomes. The findings, to be published in a leading hematology journal and presented at a specialist conference, will accelerate the development of next-generation gene-based therapies and repurposed medicines for SCD, a disease affecting millions globally, primarily in sub-Saharan Africa and among people of African descent. This research highlights the potential of AI in analyzing large-scale clinical data to transform treatment strategies across various diseases.
Key Highlights
- Completion of the largest and most comprehensive Sickle Cell Disease (SCD) study ever undertaken.
- AI-driven analysis of a decade's worth of real-world patient data to map disease progression and treatment outcomes.
- Findings to accelerate development of gene-based therapies and repurposed medicines for SCD.
- Study highlights the potential of AI in analyzing large-scale clinical data to transform treatment strategies.
Incidence and Prevalence
Global Incidence and Prevalence of Sickle Cell Disease: Latest Estimates
Global Distribution
A 2024 systematic literature review of SCD epidemiology found that prevalence was highest in Africa (~800/100,000), followed by the Middle East (~200/100,000) and India (~100/100,000), in contrast to ~30/100,000 in Europe. This review confirmed that sub-Saharan and North-East Africa, India, the Middle East, and the Caribbean islands are global SCD hotspots.
Birth prevalence was highest in Africa (~1000/100,000) and lowest in North America (~50/100,000) and Europe (~30/100,000).
Regional Data
United States
In the United States, a 20-year study identified 39,422 confirmed cases of sickle cell disease among 76,527,627 newborn births screened, giving an incidence of 1:1941. The highest incidence was in the District of Columbia (1:437) followed by Mississippi (1:683) and South Carolina (1:771).
For sickle cell trait, there were 1,107,875 laboratory reports among 73,951,175 newborn births screened (1:67), with highest incidences in the District of Columbia (1:22), Mississippi (1:26), and South Carolina (1:31).
A 2020 Michigan study (1997-2014) identified 592 SCA births and 33,404 sickle cell trait births, with the majority of SCA (86.3%) and trait (80.2%) cases among black children.
In Shelby County, TN (2016), the prevalence of SCD in African Americans was 1/287 live births, significantly higher than the nationally reported 1/350-1/500.
Caribbean
In Guadeloupe (French West Indies), between 1984-2010, 178,428 newborns were screened, with 585 children diagnosed with major sickle cell syndromes, giving an overall incidence of 1 in 304 births. Sickle cell anaemia (SS disease) was most frequent (1 in 575 births), followed by haemoglobin SC disease (1 in 771 births) and haemoglobin Sβ-thalassemia disease (1 in 4,243 births).
Europe
In the Netherlands (2003-2009), the overall incidence of severe haemoglobinopathy was 2.5 per 10,000 live births, with sickle cell disease diagnosed at 2.1 per 10,000 live births.
South America
In Piauí, Brazil (2014-2015), out of 69,180 newborn samples, 3,747 were diagnosed with hemoglobinopathies. Sickle cell trait was most frequent (4.1%), followed by hemoglobinopathy C (0.9%); homozygous hemoglobin S cases were 0.1%.
Africa
In Niger, the prevalence of sickle cell anemia is about 20%.
India
In India, sickle cell disease predominantly affects indigenous (tribal) people (about 104 million). A 2015 study screening 35,636 individuals found 5466 with sickle cell trait and 1010 with sickle cell disease. The trait prevalence was 13.0% in Scheduled Castes, 12.0% in Scheduled Tribes, and 3.4% in the Other Backward Class population in Central India. With a population of 1.2 billion, India is estimated to be home to over 50.0% of the world's sickle cell disease patients.
Research Limitations
The 2024 review identified limitations due to gaps in published literature for large parts of the world population, inconsistent reporting of SCD genotypes, diagnostic criteria, and settings, and sparsity of peer-reviewed publications from countries with assumed high prevalence.
Economic Burden
Economic Burden of Treating Sickle Cell Disease in USA and Europe
United States
Recent studies reveal the substantial economic burden of Sickle Cell Disease (SCD) in the United States. A 2023 study estimated SCD-attributable costs over ages 0 to 64 years to be $1.6 million for females and $1.7 million for males with SCD among commercially insured individuals, representing a 907% increase in total medical costs compared to control subjects.
Out-of-pocket expenses were estimated at $42,395 for females and $45,091 for males, showing a 285% increase over control subjects. An earlier 2009 study had estimated the lifetime cost of care at $460,151 per patient.
For Medicaid patients experiencing end-organ damage, costs increase dramatically: - Annual costs within 1 year after stroke: $285,816 - More than 1 year after stroke: $127,393 - Chronic kidney disease: $135,493 - End-stage renal disease: $209,172 - Pulmonary hypertension: $148,174
Patients with multiple SCD complications faced even higher costs. The mean annual time SCD patients spent receiving healthcare services ranged from 56 to 62 days for those with end-organ damage versus 21 to 25 days for those without.
For elective spinal fusion surgeries, SCD patients experience significantly longer length of stay (7.0 vs. 3.8 days) and higher inpatient costs ($20,794 vs. $17,608).
A 2022 study on gene therapy for SCD estimated a budget impact of $29.96 million per state Medicaid program in the first year, with a therapy price of $1.85 million.
A 2024 systematic review found that the highest medical cost component was inpatient care ($11,978-$59,851 annually), with cost differences between SCD and non-SCD individuals ranging from $6,636-$63,436 annually.
Europe
In Greece, the annual cost of SCD was estimated at €21,152,340 (US$25,219,300) in 2022, representing approximately 1.0% of the budget allocated to pharmaceutical spending.
In France, a 2023 study found mean annual costs of €25,680 for SCD patients versus €3,227 for controls, representing an extra cost of almost €150 million over the entire SCD population. French SCD patients had a mean reimbursed cost of €24,310 over the follow-up period, with hospitalization costs accounting for €21,156.
French data also revealed a management shift with age: younger patients experienced more frequent hospitalizations and acute procedures, while older patients required more frequent medical visits and paramedical care.
The 2024 systematic review highlighted significant gaps in current economic research, noting an incomplete characterization of medical and non-medical costs within SCD, with no studies capturing the cost burden throughout the lifetime disease trajectory or quantifying caregiver or productivity costs.