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Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families.

Haematologia - 1 Jan 2002

Kedar Prabhakar S, Colah Roshan B, Ghosh Kanjaksha, Mohanty Dipika

Abstract excerpt

Congenital methemoglobinemia is a relatively rare clinical disorder characterized by life-long cyanosis, caused by either an inherited mutant hemoglobin (Hb-M) or deficiency of physiologically active NADH-dependent methemoglobin reductase (NADH-MR). NADH-MR deficiency leads to two different types of recessive congenital methemoglobinemia. In type I, cyanosis is the only major symptom and NADH-MR deficiency is...

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PMID: 12803131

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