Laboratory tests showed mild anemia, neutrophilia, prolonged coagulation tests, slight consumption of fibrinogen, and severe increase in creatine phosphokinase (CPK) (Hb: 10.2 g/L, white blood cell count: 12,054/mm3, neutrophils: 9250/mm3, lymphocytes: 1954/mm3, monocytes: 552/mm3, platelets: 112.00/mm3, prothrombin time: 16 s, partial thromboplastin time: 54 s, fibrinogen: 154 mg/dL, CPK: 1174.5 mcg/L). The gene discussed is PIK3C2A; the disease is anemia (phenotype).