Primary shunt hyperbilirubinaemia in a large four-generation family confirming autosomal dominant genetic disorder

Figure 1 Peripheral smear and bone marrow aspirate. A and B: Peripheral smear and bone marrow aspirate of a healthy volunteer, respectively (400×, Giemsa); C: Peripheral smear of the propositus, showing irregular erythrocytes in shape and size with mild macrocytosis and target-, rod-, tear-drop cells; D: Bone marrow aspirate of the propositus which revealed a erythroid hyperplasia and some target-, rod-, tear-drop erythrocytes.

Figure 2 The four-generation family pedigree affected by PSH. The propositus is indicated with an arrow. Symbols are indicated as follows: Circles for females; squares for males; blank for unaffected; full shadowed for affected by PSH.