Patient 10, who had a novel mutation in the PBGD gene (Cys209Term), presented with common clinical manifestation of porphyria (cyclical attacks of constipation and abdominal pain) but also experienced continuous hypertension, renal dysfunction (creatine: 130–321 μmol/L), and unexplained thrombocytopenia (32–80 × 109 platelets/L), which were aggravated during both of her two pregnancies. The gene discussed is HMBS; the disease is Thrombocytopenia.