Abstract

Congenital methemoglobinemia, especially caused by pathological hemoglobin M, is an extremely rare cause of cyanosis in newborns. The time to onset and severity of clinical manifestations in hemoglobin M disease depends on which globin chain the mutation occurred in.Purpose. To present the case of congenital methemoglobinemia associated with hemoglobin M disease, not recognized in the neonatal period, to summarize the data on diagnosis, therapy, and prognosis for this pathology.Clinical case. In a full-term child without organ pathology, the development of diffuse cyanosis in the early neonatal period, a decrease in pSO2 of 70%, resistant to oxygen therapy, and increasing anemia were noted. The level of methemoglobin is up to a maximum of 17%. A decrease in the level of methemoglobin to 5.7% and stabilization of pSO2 >90% were obtained after two transfusions of erythrocyte suspension. No pathological forms of hemoglobin were detected during electrophoresis on the 5th day of life. Repeated electrophoresis at the age of 5 months revealed a pathological hemoglobin fraction of 8.9% corresponding to hemoglobin M Iwate. During the first year of observation, the growth and development of the child corresponds to the age norm. Stable acrocyanosis. Methemoglobin in the blood remains at the level of 8.7–8.9% without specific therapy for the last 6 months.Conclusion. The diagnosis of congenital methemoglobinemia due to the presence of defective hemoglobin M (M-hemoglobinopathy) was established basing on the high persistent level of methemoglobin (9–12%) and hemoglobin electrophoresis identified an abnormal hemoglobin M (HbM Iwate) variant.

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