The journey from blue to pink-a rare cause for self-limiting methemoglobinemia in an Indian baby

Abstract

Objectives: To describe a rare case of methemoglobinemia in a newborn baby with excellent prognosis. Methemoglobinemia in the neonatal period is very rare and when present is usually caused by environmental toxicity from strong oxidizing agents and rarely due to enzyme deficiency or inherited disorders of hemoglobin metabolism. Case presentation: We report a newborn baby presented with cyanosis and desaturation right from birth, later found to have methemoglobinemia and started medication. Genetic evaluation revealed a mutation in the gamma chain of fetal haemoglobin (HbF) causing abnormal hemoglobin. Physiologically significant mutations in gamma-globin genes cause symptoms in the fetus and neonate that gradually abate in the first few months of life. Conclusions: Genetic evaluation is advisable in babies with unexplained methemoglobinemia as the prognosis of the condition depends on the underlying mutation. Early diagnosis of methemoglobinemia due to gamma chain mutation in HbF as in our case helps in reassuring the parents and also in preventing unnecessary aggressive investigations.