Salvador Payán Pernía Highlights PIGA Gene Case and Thalassemia Advances at 5th Rare Diseases Conference in Hematology
Salvador Payán Pernía, Member of the Board of Directors of the Erythropathology Group at Spanish Society of Hematology and Hemotherapy (SEHH), shared on LinkedIn:
”Yesterday, the 5th Rare Diseases Conference in Hematology took place, organized by our colleagues at the Regional Hospital of Malaga.
Our case, that of a family with a germline mutation in the PIGA gene, which is associated with a phenotype of epilepsy, mental retardation, and juvenile hereditary hemochromatosis, was chosen for oral presentation, which was superbly delivered by our resident Manuel Vázquez and Alexandra Elbers, a resident at Basurto Hospital who has chosen us for her external rotation in Erythropathology.
This gene is best known for the relationship between somatic mutations and paroxysmal nocturnal hemoglobinuria (PNH).
In turn, I spoke about the “treatment of intermediate thalassemia in 2026.”
A few hours earlier, the EMA approved mitapivat, based on a clinical trial in which we participated at the Virgen del Rocío University Hospital.”
Stay updated with Hemostasis Today.
-
Jun 25, 2026, 19:32Javier M. Floren: A Blood Clot Is One of the Most Impressive Examples of Teamwork You’ll Ever See
-
Jun 25, 2026, 19:31Marcin Krzysztof Maniak: Linking Tissue Mechanics to Inflammation in Health and Disease
-
Jun 25, 2026, 19:29Deepak Rawat: A Diagnosis Like Immune Thrombocytopenia Changes Your Perspective
-
Jun 25, 2026, 19:27Srikanth R.: Don’t Ignore Your Health While Chasing Success
-
Jun 25, 2026, 19:27Jamie Nash: Delighted to Receive the BBTS Race and Sanger Award 2026
-
Jun 25, 2026, 15:56Wolfgang Miesbach: Building the Future of Gene Therapy – From Centre Readiness to Long-Term Patient Care
-
Jun 25, 2026, 15:46Amber Yates: Making a Meaningful Difference for People Living with Sickle Cell Disease
-
Jun 25, 2026, 15:43Nancy Cavey: Navigating Disability Benefits for Patients with Immune Thrombocytopenia
-
Jun 25, 2026, 15:28Damon Race: Pursuing Long-Term Expression in Hemophilia A Gene Therapy