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As the most common hereditary anemia, thalassemia has a large impact on individuals and healthcare systems. The World Health Organization has labeled thalassemia as a significant contributor to worldwide morbidity and mortality. There have been advances in prenatal screening and more effective therapeutics, but challenges to implementing these, especially in some demographic groups and geographic locations, remain. In addition, patients鈥� quality of life can be adversely affected, especially for individuals who are transfusion-dependent and are balancing life-long transfusions and the possible complications of iron overload.¹

To estimate the global burden of thalassemia, first author, Yuanyuan Tuo, and corresponding authors, Jiao Jin, PhD, and Zhixu He, all of the Department of Pediatric Hematology, The Affiliated Hospital of Guizhou Medical University, Guiyang, China, and colleagues, used data from the Global Burden of Disease study from 2021 and Joinpoint regression analysis, which can identify and quantify significant 鈥渃hange points鈥� in a series of data over time.¹

The findings of their investigation were published online in eClinicalMedicine.

Regional differences observed

The investigators studied thalassemia trends from 1990-2021. When comparing the age-standardized prevalence rate (ASPR), age-standardized incidence rate (ASIR), mortality rate (ASMR), and the rate of disability-adjusted life years (DALYs), a general decrease was seen over the study period.¹

At the regional level, the highest ASPR was seen in East Asia (54.26 per 100,000 persons), then Southeast Asia (43.38 per 100,000 persons). The ASPRs were significantly lower in high-income areas, with high-income North America seeing a rate of 1.53 per 100,000 persons. Regarding changes over time, in the regions with a low sociodemographic index (SDI) and high-middle SDI, there was a slight increasing trend, whereas the high SDI regions had a non-significant change, and the middle SDI regions had a downward trend. The ASIR was also the highest in East Asia, followed by Southeast Asia.¹

The ASMRs were highest in the low SDI regions and lowest in the high SDI regions. Looking at the declines in ASMR, the investigators found that the largest decline was in the high-middle SDI regions at a rate of -0.74 per 100,000 persons.¹

The age-standardized DALYs rate was also investigated by region. The regions with the highest rates were Southeast Asia (24.01 per 100,000 persons) and Western and Southern sub-Saharan Africa (21.20 and 15.56 per 100,000 persons, respectively). The greatest reductions in the DALYs rates were seen in East Asia and high-income Asia Pacific (-0.77 per 100,000 persons for both), then Western Europe (-0.75 per 100,000 persons).¹

Variation by country

The authors found that the highest ASPRs were in Cambodia (177.47 per 100,000 persons), Lao People鈥檚 Democratic Republic (158.37 per 100,000 persons), Thailand (157.11 per 100,000 persons), Maldives (122.35 per 100,000 persons), Myanmar (89.74 per 100,000 persons), and China (55.43 per 100,000 persons). The countries with the lowest ASPRs were the United States (1.35 per 100,000 persons), Germany (1.49 per 100,000 persons), Greenland (1.85 per 100,000 persons), Chile (2.03 per 100,000 persons), Uruguay (2.16 per 100,000 persons), and Argentina (2.37 per 100,000 persons).¹ The largest increases between 1990 to 2021 were seen in Honduras, Brazil, and the US Virgin Islands.¹

The most significant changes for increase in ASIR by country were in Guatemala, Italy, and Germany, whereas the largest decreases in ASIR were seen in the US, Cyprus, and Tajikistan.¹

By country, the highest ASMRs were in Guinea-Bissau (0.93 per 100,000 persons), Cambodia (0.90 per 100,000 persons), Lao People鈥檚 Democratic Republic (0.82 per 100,000 persons), Pakistan (0.75 per 100,000 persons), and Kiribati (0.70 per 100,000 persons). Taiwan, Turkmenistan, and Kazakhstan had the largest increases in ASMR. Grenada, Antigua and Barbuda, and Singapore had the largest decreases.¹

Stratifying by age and sex

By sex, the prevalence in males was higher than in females until 35 years of age; it was then higher in females until age 69. The incidence of new cases was higher in males in 2021 than in females. By age, the highest incidence and mortality rates were in individuals under 5 years of age; next was the 5鈥�9-year-olds, and then the 15鈥�19-year-olds.¹ The rate of DALYs mostly decreased with age, was higher in females than males under 5 years of age and the 15鈥�29-year-old group, but was higher in males in the 5鈥�9-year-olds.¹

Over the study period, the ASIR and ASMR generally declined in all age groups. The prevalence was higher in males than females and decreased in children < 5 years of age. The other children鈥檚 age groups also had a decreasing trend. The prevalence rates for 40鈥�49-year-olds increased after 2010. The 50鈥�69-year-olds had an overall increase in prevalence.¹

Comparative trends by Joinpoint analysis

The Joinpoint regression analysis demonstrated a statistically significant upward trend overall in ASPR from 2018 to 2021. The ASIR had a global downward trend throughout the entire study period, but especially during 2018 to 2021. The ASMR also had a downward trend over the 1990 to 2021 period, but had a significant increase in the last 2 years of that period (more women). The DALYs trend also had an overall decrease over the entire period and a slight increase in the last 2 years.¹

By regions, the Joinpoint analysis showed that the ASPR in Central Europe, Eastern Europe, and Central Asia increased in most time periods, but had a downward trend from 2016 to 2021. Conversely, Latin America and the Caribbean had an upward trend for ASPR during the entire study period.¹ The ASPR for Southeast Asia, East Asia, and Oceania decreased from 1994 to 2019 and even more in the last 2 years. In Latin America and the Caribbean, the ASPR decreased the most between 2007 and 2010, and then steadily declined from 2018 to 2021.¹

In Central Europe, Eastern Europe, and Central Asia, the ASMR increased in the first 5 years of the study period but then declined, with the most substantial decrease in the final 2 years. In Southeast Asia, East Asia, and Oceania, the ASMR had a decline periodically, the largest being from 2000 to 2013.¹

Exploring the future

Speaking to 澳门老奇人论坛, Dr. Jin emphasized the importance of the study. 鈥淔irstly, the importance of personalized treatment cannot be overstated. Our analysis provides valuable insights into high-risk patient groups based on age and gender, which can significantly enhance the precision of treatment plans and improve patient outcomes. Furthermore, the regional disparities in thalassemia burden underline the need for equitable distribution of healthcare resources. Ensuring that all patients, regardless of their geographic location, have access to timely and effective treatment is essential.鈥�

Regarding future studies, Dr. Jin told 澳门老奇人论坛, 鈥淭o provide valuable insights into the efficacy and sustainability of various therapies, including gene therapy and other emerging treatments, future research should focus on long-term studies that track the outcomes of different treatment modalities for thalassemia.鈥� 

鈥淎dditionally,鈥� continued Dr. Jin, 鈥渢here is a need for more detailed genetic and molecular studies to understand the underlying mechanisms of thalassemia better, paving the way for targeted therapies and personalized medicine approaches, ultimately improving patient outcomes. It is crucial to conduct more epidemiological research in underrepresented areas, identifying specific needs and challenges in these regions, allowing for more effective resource allocation and healthcare planning. To understand the psychosocial impact of thalassemia on patients and their families, future studies should explore the quality of life of individuals living with thalassemia, addressing mental health issues, social stigma, and support systems.鈥� 

Through proper allocation of healthcare resources and research into novel treatment methods, Dr. Jin is hopeful that thalassemia can one day be eradicated.

Published: June 28, 2024