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Endocrinopathies in beta thalassemia: a narrative review

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Abstract

Beta thalassemia is the most common genetic blood disorder, characterized by reduced production or complete absence of beta-globin chains. The combination of systematic red blood cell transfusion and iron chelation therapy is the most readily available supportive treatment and one that has considerably prolonged the survival of thalassemia patients. Despite this, the development of endocrine abnormalities correlated with beta thalassemia still exists and is mostly associated with iron overload, chronic anemia, and hypoxia. A multifactorial approach has been employed to investigate other factors involved in the pathogenesis of endocrinopathies, including genotype, liver disease, HCV, splenectomy, socioeconomic factors, chelation therapy, and deficiency of elements. The development of specific biomarkers for predicting endocrinopathy risk has been the subject of extensive discussion. The objective of the present narrative review is to present recent data on endocrinopathies in beta thalassemia patients, including the prevalence, the proposed pathogenetic mechanisms, the risk factors, the diagnostic methods applied, and finally the recommended treatment options.

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  1. Hematological Laboratory, Second Department of Internal Medicine, Aristotle University, Hippokration, Hospital, Thessaloniki, Greece

    Theodora-Maria Venou & Efthimia Vlachaki

  2. Clinic of Internal Medicine, General Hospital of Katerini, Katerini, Greece

    Fani Barmpageorgopoulou

  3. Clinic of Endocrinology, Attikon University Hospital, Athens, Greece

    Melpomeni Peppa

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Venou, TM., Barmpageorgopoulou, F., Peppa, M. et al. Endocrinopathies in beta thalassemia: a narrative review. Hormones (2023). https://doi.org/10.1007/s42000-023-00515-w

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