Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations

Abstract

Abstract We report a child with persistently low oxygen saturations (SpO2 90%–92%) [normal SpO2 > 98%], with delayed diagnosis due to the co‐existing congenital pulmonary airway malformation with possible arterio‐venous malformation. The diagnosis was only achieved after low oxygen saturations incidentally discovered from the child's father. The eventual cause was Hemoglobin I‐Toulouse, making both patients the first reported cases with low oxygen saturations.

Keywords

• genetics
• hematology
• pediatrics and adolescent medicine
• respiratory medicine