Written by Dr Jelena Roganovic, Children’s Hospital Zagreb, Croatia
I recently completed a Short-Term Scientific Mission at the Laboratory of Erythropathy and Iron Metabolism, University of Coimbra, under the mentorship of Prof. Celeste Bento.
During this intensive training, I gained hands-on experience with advanced diagnostics for rare and complex hemoglobinopathies, including HPLC, Gap-PCR, MLPA, and NGS. A key focus was on integrating laboratory findings with clinical data, especially in challenging diagnostic cases.
This experience significantly strengthened my skills in molecular diagnostics and improved my ability to interpret results in a clinically meaningful way. It also provided valuable perspectives on selecting appropriate diagnostic strategies in both routine and complex scenarios.
Beyond the training itself, Prof. Bento’s dedication, openness, and generosity in sharing her knowledge greatly enriched not only my experience but left a deep and lasting impression.
The STSM also fostered knowledge exchange within the HELIOS network and established the foundation for future collaboration. As a follow-up, we are preparing a joint review titled “Understanding Hemoglobinopathies: Practical Guidelines for Physicians” to support awareness and improve diagnosis in regions with increasing prevalence.
Grateful for this enriching experience and looking forward to sharing knowledge within my institution and the wider HELIOS community!
Jelena Roganovic, MD, PhD, Prof.
Children’s Hospital Zagreb, Croatia