Genetic basis of haematological conditions

The aim of the project is the molecular characterization of genetic blood disorders in patients with haemoglobinopathies, red blood cell enzyme defects, venous and arterial thrombosis, haemorragic diseases, congenital erythrocytosis and increased percentages of HbF, searching for genetic variants associated or potentially involved in these clinical phenotypes. This project is conducted in collaboration with the Haematology Service of Centro Hospitalar e Universitário de Coimbra (CHUC).

Duration: 2018 – 2023

Coordinator (PI): Licínio Manco (CIAS), Celeste Bento (CIAS), Teresa Fidalgo (CIAS)

Participants: Licínio Manco (CIAS), Celeste Bento (CIAS), Teresa Fidalgo (CIAS), Janet Pereira, Luís Relvas, Maria Letícia Ribeiro (CIAS)

Financial support: Forum hematologico (Serviço de Hematologia Clínica – CHUC); FCT-CIAS: UID/ANT/00283/2019 (Portugal)