Sonography reveals SVT of the splenic-portal axis and blood tests disclose anemia (Hb = 10.5 g/dL; Hct = 32%), leukocytosis (WBC = 18.2 × 109/L), and thrombocytosis (Plt = 596 × 109/L) with low Epo levels (3.3 mU/mL [4.3–29]), and JAK2V617F mutation. The gene discussed is EPO; the disease is anemia (phenotype).