Red blood cells are the most abundant cells in the human body, essential for transporting oxygen to tissues. Hereditary anemias are genetic conditions that result in a shortage of red blood cells, causing symptoms ranging from fatigue to life-threatening complications. Unfortunately, many patients face delayed or inaccurate diagnoses, leading to unsuitable treatments and reduced quality of life.

This project aims to substantially advance the diagnosis and treatment of hereditary anemias by integrating novel technologies into standard practice. This includes advanced genetic testing with novel interpretation methods, enhanced measurements of red blood cell's function, and gene editing techniques. These innovations will provide precise diagnoses, deeper insights, and facilitate the development of personalized treatments for patients of all ages and backgrounds across Denmark suffering from hereditary anemias.