Importance of early diagnosis of thalassemia and implications in its treatment: literature review


  • Ihann Lopes Campos Martins Diniz
  • Fabio Marques de Almeida
  • Poliana Peres Ghazale
  • Murillo de Sousa Pinto



Hemoglobin, Diagnosis, Quality of Life, Public Health


Thalassemia is a hereditary genetic disease that is characterized by changes in the conformation of hemoglobin. This pathology includes different types of blood changes that are characterized by lower levels or the absence of normal globin chains in hemoglobin. With the aim of contributing to the reduction of damage caused by thalassemia, the present study aims to promote awareness about the importance of early diagnosis of thalassemia, aiming to reduce health complications and improve patients' quality of life through medical interventions and support. adequate. To carry out this literature review on thalassemia, we will adopt an integrative analytical approach of searching and analyzing relevant studies. Initially, databases relevant to the area were selected, such as PubMed, Scopus, Web of Science. This study highlights the significance of early diagnosis of thalassemia as a crucial measure in the effective management of this genetic condition. Early identification not only allows for the implementation of appropriate medical interventions and treatments, but also helps reduce health complications and improve patients' quality of life.


ALI, Shaukat et al. Current status of beta‐thalassemia and its treatment strategies. Molecular genetics & genomic medicine, v. 9, n. 12, p. e1788, 2021.

BAIRD, D. C.; BATTEN, S. H.; SPARKS, S. K. Alpha-and beta-thalassemia: rapid evidence review. American family physician, v. 105, n. 3, p. 272-280, 2022.

CHAROENKWAN, P. et al. Causes of Hospitalizations in Pediatrics Patients with Thalassemia under the National Health Coverage Scheme in Thailand. Thalassemia Reports, v. 14, n. 1, p. 10-17, 2024.

FRASÃO, G. et al. Thalassemia: find out what the disease is and the importance of early diagnosis. 2022.

HORVEI, P.; MACKENZIE, T.; KHARBANDA, S. Advances in the management of α-thalassemia major: reasons to be optimistic. Hematology, v. 2021, n. 1, p. 592-599, 2021.

HOSSAIN, M. S. et al. Thalassemias in South Asia: clinical lessons learnt from Bangladesh. Orphanet journal of rare diseases, v. 12, p. 1-9, 2017.

LOPES, A. et al. Prevalence of Cardiovascular Complications in Individuals with Sickle Cell Anemia and Other Hemoglobinopathies? A Systematic Review. Brazilian Society of Cardiology, v. 119, n. 6, p. 893-899, 2022. Available at: Accessed on: May 2, 2024.

MANGANAS, K. et al. Unveiling Extramedullary Hematopoiesis: A Case Report Highlighting the Causes, Symptoms, and Management Strategies. Thalassemia Reports, v. 14, n. 2, p. 26-32, 2024.

Ministry of Health. Guidelines for the Diagnosis and Treatment of Beta Thalassemias. Brazilian Thalassemia Association, 2016. Available at: Accessed on: May 2, 2024.

OLIVEIRA, B. B. et al. Alpha thalassemia resulting from deletion of the regulatory element of cluster α in two unrelated individuals. Hematology, Transfusion and cell Therapy, v. 44, p. S61, 2022.

POLAINAS, S. S. M. et al. Thalassemias: etiology, pathophysiology, diagnosis and therapeutic approaches. 2017. Doctoral Thesis.

SAFIRI, S. et al. Burden of anemia and its underlying causes in 204 countries and territories, 1990–2019: results from the Global Burden of Disease Study 2019. Journal of hematology & oncology, v. 14, p. 1-16, 2021.

SHAFIQUE, F. et al. Thalassemia, a human blood disorder. Brazilian Journal of Biology, v. 83, p. 1-8, 2023. Available at:

CqMVfBgh6zsTkSQ/?lang=en. Accessed on: 14 April. 2024.

SILAO, C. L. T. et al. Insights in thalassemia: from genomics to clinical practice. Frontiers in Pediatrics, v. 11, p. 1222946, 2023.

TARIQ, Z. et al. Thalassemia and Nanotheragnostics: Advanced Approaches for Diagnosis and Treatment. Biosensors, v. 13, n. 4, p. 450, 2023.




How to Cite

Diniz, I. L. C. M., Almeida, F. M. de, Ghazale, P. P., & Pinto, M. de S. (2024). Importance of early diagnosis of thalassemia and implications in its treatment: literature review. STUDIES IN HEALTH SCIENCES, 5(2), e4270 .

Most read articles by the same author(s)