Functional analyses demonstrated mutation-specific pathobiological crosstalk: 1) SF3B1-mediated mitochondrial iron mislocalization (ALAS2 splicing defects, ABCB7 downregulation) synergized with ASXL1-driven epigenetic repression of erythroid transcription factors (GATA1, KLF1), exacerbating anemia; 2) JAK2 p.R683G’s partial kinase activation combined with CBL-dependent RAS/MAPK signaling sustained thrombocytosis through megakaryocytic hyperplasia. The gene discussed is ALAS2; the disease is anemia (phenotype).