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Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.

Blood cells, molecules & diseases - 1 Jan 2000

Fermo Elisa, Bianchi Paola, Vercellati Cristina, Marcello Anna Paola, Garatti Massimo, Marangoni Ornella, Barcellini Wilma, Zanella Alberto

Abstract excerpt

We report the clinical and molecular characteristics of 6 new patients with recessive hereditary methemoglobinemia due to cytochrome b5 reductase deficiency. One patient was affected by Type-II disease with cyanosis and severe progressive neurological dysfunction, whereas the others displayed the benign Type-I phenotype. Methemoglobin levels ranged from 12.1% to 26.2% and cytochrome b5 reductase activity from 0...

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Identifiers

PMID: 18343696
DOI: 10.1016/j.bcmd.2008.02.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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