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.”
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