Laura Calvo, a researcher in the Department of Biomedical Sciences at UIC Barcelona, has taken part in a study that has identified new mutations associated with Diamond–Blackfan anaemia, a rare hereditary disorder that affects the production of red blood cells.
The researcher is a member of the research group Iron Metabolism: Regulation and Diseases, led by Dr Mayka Sánchez. The study, published in the journal Blood Red Cells & Iron, expands current knowledge of the genetic basis of this disease and paves the way for improved diagnosis and treatment.
The authors examined several clinical cases to identify the newly observed genetic variants. Diamond–Blackfan anaemia is linked to alterations in genes that encode ribosomal proteins, which are essential for protein synthesis within cells. When these genes are mutated, red blood cell production decreases substantially. As a result, reduced oxygen reaches the body’s tissues, causing severe anaemia during the first year of life.
The researchers also note that many of the variants they identified are associated with additional clinical features, including skeletal or craniofacial abnormalities. Understanding how these mutated genes relate to the disease helps improve both diagnosis and the clinical management of affected individuals.
The study was conducted in collaboration with Hospital de Sant Pau in Barcelona, Hospital Universitario La Paz in Madrid and Hospital Universitario Virgen de la Arrixaca in Murcia.
The Hereditary Haematology and Iron Metabolism – HELAINE research group at UIC Barcelona, led by Dr Sánchez and including Laura Calvo, focuses its scientific activity on genetics (including gene therapy), the molecular and cellular biology of rare haematological and paediatric haematological diseases, bioinformatics and the development of telemedicine tools for rare hereditary and iron-related disorders.
