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

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

Research output: Contribution to journalArticle

Abstract

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 to 10% of normal. Eight different mutations were detected among the twelve mutated alleles identified, one splicing mutation, two stop codon, and five missense. Two mutations c. 82 C>T(Gln27STOP) and c. 136 C>T(Arg45Trp) are new. Prenatal diagnosis was performed in the family with Type-II disease.

Original languageEnglish
Pages (from-to)50-55
Number of pages6
JournalBlood cells, molecules & diseases
Volume41
Issue number1
DOIs
Publication statusPublished - Jul 2008

Keywords

  • Cytochrome b5 reductase deficiency
  • DIA1 gene
  • Methemoglobinemia
  • Mutations

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Hematology

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