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- W4367299936 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." @default.
- W4367299936 created "2023-04-29" @default.
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- W4367299936 date "2023-04-27" @default.
- W4367299936 modified "2023-09-25" @default.
- W4367299936 title "Congenital methemoglobinemia and abnormal hemoglobin M variant in a newborn with cyanosis" @default.
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- W4367299936 doi "https://doi.org/10.21508/1027-4065-2023-68-2-81-85" @default.
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