# Pubertal Assessment and Growth in Patients With Hemoglobinopathies: A Longitudinal Multicenter Study on the Association With Ferritin Levels

## TL;DR

This study found that high ferritin levels are linked to delayed puberty and growth issues in patients with thalassemia and sickle cell disease.

## Contribution

The study provides new insights into the relationship between iron overload and pubertal development in hemoglobinopathy patients.

## Key findings

- Delayed puberty was observed in 14.7% of thalassemia patients and 13.2% of SCD patients.
- Elevated ferritin levels were significantly associated with growth delays in thalassemia patients.
- Gonadal insufficiency was more common in females with thalassemia compared to those with SCD.

## Abstract

Although Advancements in the Treatment of Hemoglobinopathies have Considerably Increased Life Expectancy, Hormonal and Pubertal Development Have Been Continuously Affected by Complications From Transfusion‐Related Iron Overload and Cytotoxic Therapies. This Study Investigated the Association Between Serum Ferritin Levels and Pubertal Progression in Patients With Thalassemia and Sickle Cell Disease (SCD).

Data Collected From 10 Hospitals in Austria, Germany, and Switzerland From 2012 to 2020 Were Retrospectively Analyzed. We Enrolled 140 Individuals (Median Age: 16.5 Years) With Thalassemia or SCD.

Overall, Delayed Puberty Was Observed in 14.7% (6.7% Females; 21.1% Males) and 13.2% of Patients With Thalassemia and SCD (6.9% Females; 20.8% Males), respectively. Gonadal Insufficiency Was Found in 13.3% and 8.6% of Females With Thalassemia and SCD, Respectively. Abnormal Growth Trajectories Were Observed in 32.5% (28.5% Females; 36.8% Males) and 18.7% of Patients With Thalassemia and SCD (13.3% Females; 23.5% Males), respectively. A Statistically Significant Association Was Found Between Elevated Ferritin Levels and Growth Delays in Patients With Thalassemia. Notably, Tanner Staging Data Were Missing in 80.7% of the Medical Records.

Our Results Indicated the Need for Comprehensive Pubertal Screening and Underscored the Importance of Robust Endocrine Follow‐Up Care in Individuals With Hemoglobinopathies.