However, in our study, the patient with this mutation showed moderate anemia symptoms, with Hb 86 g/L, MCV 66.4 fl, MCH 19.1 pg, and HbA2 1.9%, which might be due to the fact that the patient, who was pregnant, might show blood volume change29 and the patient was found to be diagnosed as iron deficiency anemia few days later, when follow‐up. The gene discussed is PMCH; the disease is anemia.