A Case of Hb Aalborg (: c.223G>C) with Chronic Obstructive Pulmonary Disease: A First Familial Presentation in Japan.

The proband was a male in his seventies who came to our facility because of shortness of breath. He was not anemic but presented dissociation between oxygen saturation (SpO) and partial pressure of oxygen (PaO) by blood gas analysis, and also demonstrated hemoglobinopathy after measurement of Hb A using high performance liquid chromatography (HPLC). Twenty-three percent of unknown hemoglobin (Hb) bands were detected.