Congenital Methemoglobinemia and Unstable Hemoglobin Variant in a Child With Cyanosis

Methemoglobinemia (Meth) is a rare hemoglobin (Hb) disorder with distinguished clinical features and complex pathophysiology. We present a three-year-old female who was diagnosed with congenital methemoglobinemia when she presented with peri-oral cyanosis and profound oxygen desaturation in the 20-30% range. This patient also had elevated deoxyhemoglobin (HHb) not explained by methemoglobinemia alone; the low pulse oximetry (SpO(2)) reading suggested a rightward-shift oxyhemoglobin (O(2)Hb) dissociation curve, which is the opposite of that expected in methemoglobinemia. This, along with evidence of hemolysis, raised the possibility of a concomitant low-oxygen affinity hemoglobinopathy, which could explain elevated HHb. Hemoglobin electrophoresis identified an abnormal hemoglobin variant which was categorized as heterozygous for unstable beta globin variant. The patient responded well to one dose of methylene blue, vitamin C, supportive oxygen (O(2)) therapy, and IV hydration and was discharged with a baseline of 50-60% SpO(2) on room air. We are reporting this case along with a brief review of the medical literature.