Figure 1.
Patients’ genetics and hematologic characteristics before treatment. (A-B) Family pedigrees: double line shows a consanguineous union; filled symbol, affected individuals; half-filled symbols, heterozygous unaffected carrier; open symbols, not affected. (A) Pedigree A with propositus A-II-1, A-II-2, and A-II-3. (B) Pedigree B with propositus B-II-1. (C) Molecular annotation of the ABCG5 variants reported here. (D-F) Sterol levels in plasma. (D) Sitosterol. (E) Campesterol. (F) Cholestanol. (G) Platelet count. (H) Mean platelet volume. (I) Thrombopoietin (TPO). Dotted lines show the normal plasma parameters.