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Hereditary methemoglobinemia is caused by congenital NADH-cytochrome-b5-reductase deficiency or by hemoglobin-M disease (globin-chain amino-acid mutation stabilizing ferric iron). It causes elevated methemoglobin, persistent cyanosis, chocolate-brown arterial blood, usually mild symptoms; the RBC-NADH form is benign, while generalized enzyme deficiency may have neurologic signs.
Cyanosis; chocolate-brown blood; asymptomatic; mild dyspnea; neurologic signs in generalized form
(1) Cytochrome-b5-reductase deficiency prevents reduction of methemoglobin (Fe3+) to hemoglobin (Fe2+); (2) Hemoglobin-M mutations stabilize ferric iron.
Methylene blue or ascorbic acid for symptomatic forms; usually no treatment needed for benign
Genetic counseling; avoid oxidant drugs.
It is recommended to visit the Hematology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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