Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review

Background Individuals with thalassemia or sickle cell disease (SCD) are at an elevated risk of developing cancer, yet the full extent of this risk remains inadequately characterised.Methods We conducted a systematic review using three databases (MEDLINE, EMBASE and Scopus) to compare the cancer ris...

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Main Authors: Lucia Merolle, Luca Ghirotto, Davide Schiroli, Giulietta Luul Balestra, Francesco Venturelli, Maria Chiara Bassi, Erminia Di Bartolomeo, Roberto Baricchi, Chiara Marraccini
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Annals of Medicine
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Online Access:https://www.tandfonline.com/doi/10.1080/07853890.2025.2522967
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author Lucia Merolle
Luca Ghirotto
Davide Schiroli
Giulietta Luul Balestra
Francesco Venturelli
Maria Chiara Bassi
Erminia Di Bartolomeo
Roberto Baricchi
Chiara Marraccini
author_facet Lucia Merolle
Luca Ghirotto
Davide Schiroli
Giulietta Luul Balestra
Francesco Venturelli
Maria Chiara Bassi
Erminia Di Bartolomeo
Roberto Baricchi
Chiara Marraccini
author_sort Lucia Merolle
collection DOAJ
description Background Individuals with thalassemia or sickle cell disease (SCD) are at an elevated risk of developing cancer, yet the full extent of this risk remains inadequately characterised.Methods We conducted a systematic review using three databases (MEDLINE, EMBASE and Scopus) to compare the cancer risk in patients with thalassemia and SCD with that of the general population. Secondly, we assessed the impact of other putative risk factors in patients with thalassemia and SCD on cancer risk.Results Five studies from four countries were included, encompassing a total of 24,439 individuals overall. The risk estimates of developing cancer were highly variable, being affected by study design, population and comparators recruited, and type of cancer. The results showed an elevated cancer risk in SCD and thalassemia patient groups, with the highest incidence observed for hematologic malignancies (especially myeloid leukaemia in SCD patients). Patients with transfusion-dependent thalassemia had a significantly higher overall cancer risk, particularly hepatocellular carcinoma, compared to both non-transfusion-dependent patients and the general population. Other key factors seem to contribute to the increased cancer risk besides transfusion dependency, viral infections, and use of iron chelators. However, people with hemoglobinopathies appeared to be at lower risk of breast and prostate cancer compared to the general population.Discussion The findings are limited by variability among studies, including differences in control groups, inconsistent reporting of outcomes, and missing assessments of confounding factors. Therefore, future research with robust methods is essential to improve cancer surveillance and develop targeted prevention strategies for high-risk populations.
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spelling doaj-art-c4aa0e2e68ca4e62ac5d2542668b6cef2025-08-20T02:37:30ZengTaylor & Francis GroupAnnals of Medicine0785-38901365-20602025-12-0157110.1080/07853890.2025.2522967Risk of cancer in patients with thalassemia and sickle cell disease: a systematic reviewLucia Merolle0Luca Ghirotto1Davide Schiroli2Giulietta Luul Balestra3Francesco Venturelli4Maria Chiara Bassi5Erminia Di Bartolomeo6Roberto Baricchi7Chiara Marraccini8Transfusion Medicine Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, ItalyQualitative Research Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, ItalyTransfusion Medicine Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, ItalyQualitative Research Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, ItalyEpidemiology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, ItalyBiomedical Library, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, ItalyTransfusion Medicine Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, ItalyTransfusion Medicine Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, ItalyTransfusion Medicine Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, ItalyBackground Individuals with thalassemia or sickle cell disease (SCD) are at an elevated risk of developing cancer, yet the full extent of this risk remains inadequately characterised.Methods We conducted a systematic review using three databases (MEDLINE, EMBASE and Scopus) to compare the cancer risk in patients with thalassemia and SCD with that of the general population. Secondly, we assessed the impact of other putative risk factors in patients with thalassemia and SCD on cancer risk.Results Five studies from four countries were included, encompassing a total of 24,439 individuals overall. The risk estimates of developing cancer were highly variable, being affected by study design, population and comparators recruited, and type of cancer. The results showed an elevated cancer risk in SCD and thalassemia patient groups, with the highest incidence observed for hematologic malignancies (especially myeloid leukaemia in SCD patients). Patients with transfusion-dependent thalassemia had a significantly higher overall cancer risk, particularly hepatocellular carcinoma, compared to both non-transfusion-dependent patients and the general population. Other key factors seem to contribute to the increased cancer risk besides transfusion dependency, viral infections, and use of iron chelators. However, people with hemoglobinopathies appeared to be at lower risk of breast and prostate cancer compared to the general population.Discussion The findings are limited by variability among studies, including differences in control groups, inconsistent reporting of outcomes, and missing assessments of confounding factors. Therefore, future research with robust methods is essential to improve cancer surveillance and develop targeted prevention strategies for high-risk populations.https://www.tandfonline.com/doi/10.1080/07853890.2025.2522967Thalassemiacancer incidencesickle cell diseasesystematic review
spellingShingle Lucia Merolle
Luca Ghirotto
Davide Schiroli
Giulietta Luul Balestra
Francesco Venturelli
Maria Chiara Bassi
Erminia Di Bartolomeo
Roberto Baricchi
Chiara Marraccini
Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review
Annals of Medicine
Thalassemia
cancer incidence
sickle cell disease
systematic review
title Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review
title_full Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review
title_fullStr Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review
title_full_unstemmed Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review
title_short Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review
title_sort risk of cancer in patients with thalassemia and sickle cell disease a systematic review
topic Thalassemia
cancer incidence
sickle cell disease
systematic review
url https://www.tandfonline.com/doi/10.1080/07853890.2025.2522967
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