Thalassemia Scenario in Brazil: A Descriptive Study
Authors: Gioseffi Janaína Rosenburg , Melo Nina Victória Menezes , Simão Fernanda Cristina dos Santos , Fróes Eduardo , Hamerschlak Nelson , Fedozzi Fábio Augusto , Moura Catherine , Loggetto Sandra 
Published: December 2024

Introduction
In Brazil, it is estimated that there are a thousand people living with Thalassemia major or intermedia. The aim of the study was to describe the scenario of thalassemia in Brazil between 2012 and 2022, focusing on the sociodemographic profile of patients and the number of procedures performed.
Methodology
A descriptive study was carried out with secondary data from 2012 to 2022 for Thalassemia codes in ICD-10 (D56.0 to D56.9, except D56.0 and D56.3 for alpha and beta thalassemia trait). Data were obtained from the Ambulatory Information System (SIA), Hospital Information System (SIH) and Mortality Information System (SIM), all public databases of the Brazilian Ministry of Health. Descriptive analyses were performed for the sociodemographic and production (procedures performed) variables of interest through tables and graphs tabulated in the PowerBI software.
Results
In ambulatory care, 662 patients were estimated for 2022. Most people with thalassemia are women (54.5%), aged between 20-29 years (29%) and 30-39 years (25%), most of whom self-declared as white (86.5%). In 10 years, 133,893 procedures were performed, with red blood cell transfusion and pre-transfusion tests being the most frequent. Most procedures were performed in the Southeast region of Brazil (68%), especially in the state of São Paulo, followed by the South region (24%), especially in the state of Paraná. The highest number of procedures occurred in 2013 and the lowest in 2020, probably due to the impact of the COVID-19 pandemic. The highest total cost was in 2022, exceeding 20 million reais (U$ 3,600,000.00). The average cost per procedure in the 10 years of the study was R$305.31 (US$54.00). Among hospitalizations, 1,278 were recorded during the period, at an average cost of almost 2,500 reais (US$ 440.00). Treatment for hemolytic anemia was the most prevalent, with an average hospitalization time of 5 days, and was more common in children under 9 years of age (33.8%). Only 3% of hospitalizations resulted in ICU admission. Total costs for hospitalizations in these 10 years were approximately three million reais (US$ 528,000.00).
Regarding mortality, a total of 153 deaths were recorded in 10 years, with the majority occurring in women aged 50 or over. The state of São Paulo had the highest number of deaths (n=56). The highest number of deaths occurred in 2017 and 2020, with 19 cases in each of these years.
Discussion
The profile of patients with thalassemia in Brazil is predominantly young adults, women, and from the Southeast and South regions, where the largest Italian immigration to the country occurred. Most of these patients were born in the decades between 1980 and 2000, when transfusion treatment was being established in Brazil. It is possible to assess the impact of the Covid-19 pandemic both in the reduction in access to treatments and procedures and in the increase in mortality in 2020. Therefore, it is believed that the number of patients with thalassemia in Brazil is underreported, given problems related to the lack of adequate completion of notification forms, such as data on causes of hospitalization and death, in addition to data on iron chelation, thus making it difficult to truly understand the scenario of thalassemia in the country.
Conclusion
Therefore, this study highlights the profile of people living with Thalassemia in Brazil, as well as their treatment, procedures and costs in the public health system. In addition, it also highlights the need for improvements in the reporting of Thalassemia treatment in Brazil, as well as a greater commitment by health institutions in collecting and disseminating accurate data for better management of public policies for Thalassemia.