Prevalence of Endocrinopathies in Moderate Anemic Patients with Β-Thalassemia Major - A Collaborative Study

Abstract

Introduction: Thalassemia is a genetic blood disorder resulting in a mutation or deletion of the genes that control globin production. Every year around 100000 children are born with thalassemia major in the world and around 10,000 are born in India alone.

Objectives: To evaluate the prevalence of endocrinopathies in moderate anaemic patients β- Thalassemia major, in the study population.

Methods:

• Data collection procedure: Information regarding the demographic features and clinical examinations will be collected from each patient.


• A 5-ml intravenous blood sample will be collected in EDTA and plain vial to determine the following biochemical investigations.

Biochemical Investigations:

1. Serum calcium


2. Phosphate Ferritin


3. Parathyroid hormone [PTH]


4. A random blood glucose level     

Sample Size: 50 children of the same age group were considered

All children with β-thalassemia major between age group of 6 to 18 who are on regular follow up with thalassemia centres.

 Results: Our study showed that 62% of BTM patients had at least one endocrine disorder, with 28.7% having two disorders and 9.3% having three types of disorders. 

Hypogonadism: This was the most prevalent endocrine complication. In the Omani study, 62% of patients were affected, with 35% exhibiting hypogonadotropic hypogonadism and 27% normogonadotropic hypogonadism.

Conclusions: Endocrine complications are common among patients with β-thalassemia major, even in those with moderate anemia.  Hypogonadism, diabetes mellitus, and hypoparathyroidism are among the most prevalent. Regular screening for endocrine dysfunctions, early initiation of chelation therapy, and multidisciplinary management are crucial for improving the quality of life and outcomes in these patients.