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

Blood Cells Mol Dis. 2008 Jul-Aug;41(1):50-5. doi: 10.1016/j.bcmd.2008.02.002. Epub 2008 Mar 17.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cytochrome-B(5) Reductase / analysis*
  • Cytochrome-B(5) Reductase / chemistry
  • Cytochrome-B(5) Reductase / deficiency
  • Cytochrome-B(5) Reductase / genetics*
  • Genes, Recessive
  • Humans
  • Infant
  • Male
  • Methemoglobin / analysis*
  • Methemoglobinemia / enzymology
  • Methemoglobinemia / genetics*
  • Middle Aged
  • Mutation*
  • Sequence Alignment

Substances

  • Methemoglobin
  • Cytochrome-B(5) Reductase