Rapamycin partially ameliorates abnormal erythroid differentiation in PUS1-deficient mice and a patient with MLASA. (A) Phosphorylation levels of 4E-BP1 were examined by western blot in BM cells of mice. Protein levels are normalized to β-actin. (B-E) Complete blood count analysis of WT and Pus1-mutant mice with or without 4 mg/kg per day rapamycin treatment. RBC (B), HGB (C), HCT (D), and PLT (E) are shown. WT, n = 3; S172fs, n = 3, female mice at 4 weeks. (F-I) Blood routine of RBC (F), HGB (G), HCT (H), MCV (I), RDW-CV (J), PLT (K), MCHC (L), and WBC (M) of the patient before and after treatment with Sirolimus. The Gray and lavender arrows indicate the period of patients before and after sirolimus treatment, respectively. Values in all panels denote mean ± SD (∗P < .05; ∗∗P < .01); 2-way ANOVA. MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume; PLT, platelet; Rapa, rapamycin; RDW-CV, RBC volume distribution width-coefficient of variation; WBC, white blood cell.