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.
-
Sep 22, 2026, 02:33Gerardo Moscatelli: The Spike Protein Cascade – From Endothelial Binding to Vascular Collapse
-
Sep 21, 2026, 20:56George Touma: ApoB Should Be Central to All Lipid Guidlines
-
Sep 21, 2026, 20:55Christopher Robinson: Obstetric Risks Are Seen at the Extremes of Birthweight
-
Sep 21, 2026, 20:54Emicizumab for Refractory GI Bleeding in Myeloma-Associated Acquired VWD – JTH
-
Sep 21, 2026, 20:52Ross Baker: ASH 2026 Guidelines on Iron Deficiency in HMB and Bleeding Disorders
-
Sep 21, 2026, 20:50Rainer Kaiser: Genes and Signalling Pathways Implicated in Procoagulant Platelet Generation
-
Sep 21, 2026, 20:49Natalia Dovlatova: Celebrating Stan Heptinstall and His Legacy in Platelet Science
-
Sep 21, 2026, 20:48Norm Roulet: The Interaction of Pb and SARS-CoV-2 and Its Impact on the Cardiovascular System
-
Sep 21, 2026, 20:45Felix Scholkmann: The Spleen Plays a Key Role in Regulating Platelet Activity