# Study of Thyroid Function in Children With Beta-Thalassemia Major

**Authors:** Mrunalini Kulkarni, Rahul V Kawade, Vinay S

PMC · DOI: 10.7759/cureus.86772 · 2025-06-25

## TL;DR

This study finds that children with beta-thalassemia major often have thyroid issues, especially as iron overload increases.

## Contribution

The study establishes a correlation between iron overload and thyroid dysfunction in children with beta-thalassemia major.

## Key findings

- 67.5% of beta-thalassemia children had normal thyroid function, while 20% had subclinical and 12.5% had overt hypothyroidism.
- Higher serum ferritin levels were positively correlated with thyroid dysfunction, with a significant increase in TSH levels.
- Periodic thyroid function evaluation is recommended for thalassemia patients to improve quality of life.

## Abstract

Beta-thalassemia major is an autosomal-recessive hereditary hemolytic anemia. The homozygous state results in severe anemia, which needs frequent blood transfusions. It eventually leads to iron overload causing multiple complications like hypogonadism, hypothyroidism, hypoparathyroidism, diabetes mellitus, liver fibrosis, and cardiac dysfunction. Iron overload leads to increased morbidity and mortality in transfusion-dependent thalassemia children. Thyroid dysfunction in thalassemia is primary hypothyroidism.

Methodology

This was an observational analytical study. The children enrolled were between two and 18 years old, admitted to the thalassemia day-care unit over a period of six months. The study protocol was approved by the Institutional Ethical Committee.

Results

Forty beta-thalassemia major patients were included in the present study, of which 18 (45%) patients were between six and 10 years old, 15 (37.5%) patients were between 11 and 18 years old, and seven (17.5%) patients were between two and five years old. Twenty-four (60%) patients were boys and 16 (40%) were girls. Serum ferritin and thyroid function were measured in these 40 study patients, in which 27 (67.5%) patients were euthyroid, eight (20%) patients had subclinical hypothyroidism, and five (12.5%) patients had overt hypothyroidism. In this study, patients with serum ferritin >2000 ng/ml, 50% were euthyroid and 50% were hypothyroid (19.23% had overt hypothyroidism and 30.77% had subclinical hypothyroidism). So there was a positive correlation between serum ferritin and hypothyroidism. As serum ferritin increased, thyroid-stimulating hormone (TSH) also showed an increasing trend and was statistically significant (p<0.05).

Conclusion

Detection of hypothyroidism is important as effective replacement therapy is available. Therefore, thyroid function should be evaluated periodically, particularly in iron overload cases. Early recognition and treatment will help to improve quality of life in thalassemia patients.

## Linked entities

- **Diseases:** beta-thalassemia major (MONDO:0016486), hypothyroidism (MONDO:0005420), hypogonadism (MONDO:0002146), hypoparathyroidism (MONDO:0001220), diabetes mellitus (MONDO:0005015)

## Full-text entities

- **Diseases:** diabetes mellitus (MESH:D003920), Iron overload (MESH:D019190), Thyroid dysfunction (MESH:D013959), thalassemia (MESH:D013789), Beta-Thalassemia Major (MESH:D017086), hypothyroid (MESH:D007037), hereditary hemolytic anemia (MESH:D000745), hypogonadism (MESH:D007006), hypoparathyroidism (MESH:D007011), liver fibrosis (MESH:D008103), anemia (MESH:D000740), cardiac dysfunction (MESH:D006331)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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Source: https://tomesphere.com/paper/PMC12296331