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16-12-2023 | Thalassemia | Review Article

Endocrinopathies in beta thalassemia: a narrative review

Authors: Theodora-Maria Venou, Fani Barmpageorgopoulou, Melpomeni Peppa, Efthimia Vlachaki

Published in: Hormones

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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.
Literature
2.
go back to reference Viprakasit V, Ekwattanakit S (2018) Clinical classification, screening and diagnosis for thalassemia. Hematol Oncol Clin North Am 32:193–211CrossRefPubMed Viprakasit V, Ekwattanakit S (2018) Clinical classification, screening and diagnosis for thalassemia. Hematol Oncol Clin North Am 32:193–211CrossRefPubMed
35.
go back to reference Ricchi P, Meloni A, Pistoia L et al (2023) Longitudinal prospective comparison of pancreatic iron by magnetic resonance in thalassemia patients transfusion-dependent since early childhood treated with combination deferiprone- desferrioxamine vs deferiprone or deferasirox monotherapy. Blood Transfus 485. https://doi.org/10.2450/BloodTransfus.485 Ricchi P, Meloni A, Pistoia L et al (2023) Longitudinal prospective comparison of pancreatic iron by magnetic resonance in thalassemia patients transfusion-dependent since early childhood treated with combination deferiprone- desferrioxamine vs deferiprone or deferasirox monotherapy. Blood Transfus 485. https://​doi.​org/​10.​2450/​BloodTransfus.​485
40.
go back to reference Suvarna J, Ingle H, Deshmukh CT (2006) Insulin resistance and beta cell function in chronically transfused patients of thalassemia major. Indian Pediatr 43:393–400PubMed Suvarna J, Ingle H, Deshmukh CT (2006) Insulin resistance and beta cell function in chronically transfused patients of thalassemia major. Indian Pediatr 43:393–400PubMed
48.
go back to reference de Sanctis V, Soliman AT, Daar S et al (2021) Long-term follow-up of β-transfusion-dependent thalassemia (TDT) normoglycemic patients with reduced insulin secretion to oral glucose tolerance test (OGTT): A pilot study. Mediterr J Hematol Infect Dis 13:. https://doi.org/10.4084/MJHID.2021.021 de Sanctis V, Soliman AT, Daar S et al (2021) Long-term follow-up of β-transfusion-dependent thalassemia (TDT) normoglycemic patients with reduced insulin secretion to oral glucose tolerance test (OGTT): A pilot study. Mediterr J Hematol Infect Dis 13:. https://​doi.​org/​10.​4084/​MJHID.​2021.​021
67.
go back to reference Singh P, Samaddar S, Parakh N et al (2021) Pubertal development and its determinants in adolescents with transfusion-dependent thalassemia. Indian Pediatr 58:635–638CrossRefPubMed Singh P, Samaddar S, Parakh N et al (2021) Pubertal development and its determinants in adolescents with transfusion-dependent thalassemia. Indian Pediatr 58:635–638CrossRefPubMed
Metadata
Title
Endocrinopathies in beta thalassemia: a narrative review
Authors
Theodora-Maria Venou
Fani Barmpageorgopoulou
Melpomeni Peppa
Efthimia Vlachaki
Publication date
16-12-2023
Publisher
Springer International Publishing
Published in
Hormones
Print ISSN: 1109-3099
Electronic ISSN: 2520-8721
DOI
https://doi.org/10.1007/s42000-023-00515-w
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