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Thyroid Disorders in Homozygous β-Thalassemia: Current Knowledge, Emerging Issues and Open Problems
Vincenzo De Sanctis1, Ashraf T Soliman2, Duran Canatan3
1Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.
Summary
Thyroid dysfunction is common in patients with β-thalassemia major (TM), with hypothyroidism affecting 4-29%. Factors like genotype and treatment influence this, and further research is needed on thyroid cancer and links to cardiovascular disease.
Area of Science:
- Endocrinology
- Hematology
- Metabolic Disorders
Background:
- Thyroid function abnormalities are frequently observed in patients diagnosed with β-thalassemia major (TM).
- The reported prevalence of hypothyroidism in TM patients varies significantly (4%–29%), influenced by genetic, demographic, and treatment-related factors.
- Understanding thyroid hormone regulation, production, and action is crucial for interpreting thyroid function tests in TM.
Purpose of the Study:
- To review the spectrum of thyroid diseases in patients with β-thalassemia major.
- To explore emerging issues and unresolved questions concerning thyroid disorders in TM patients.
- To provide a comprehensive overview of thyroid dysfunction in the context of TM management.
Main Methods:
- Literature review focusing on thyroid function in β-thalassemia major.
- Analysis of laboratory parameters including serum thyroid-stimulating hormone (TSH) and free thyroxine (FT4).
- Discussion of diagnostic criteria for subclinical and secondary hypothyroidism.
Main Results:
- Subclinical hypothyroidism, characterized by elevated TSH and normal FT4, is commonly diagnosed in TM patients during their second decade of life.
- Primary hypothyroidism results from direct thyroid gland failure, while secondary hypothyroidism indicates issues with hypothalamic or pituitary stimulation.
- Variability in hypothyroidism frequency is linked to genotype, age, ethnicity, transfusion/chelation protocols, and treatment adherence.
Conclusions:
- Thyroid dysfunction is a significant comorbidity in β-thalassemia major patients.
- Further research is essential to investigate the incidence of thyroid cancer and the relationship between thyroid dysfunction, cardiovascular diseases, metabolic syndrome, and hypercoagulable states in TM.
- Accurate interpretation of thyroid function tests requires consideration of laboratory-specific reference ranges and clinical context.
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