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Quantitative variations of red-cell cytochrome b5 reductase (NADH-methemoglobin-reductase) in the Algerian population

Evidence for defective alleles

Summary

A striking proportion of Algerian subjects was reported among patients with congenital recessive methemoglobinemia due to cytochrome b5 reductase deficiency (Kaplan et al. 1979).

A population survery was carried out in red blood cells from 1000 algerian subjects. In 16 subjects, the cytochrome b5 reductase activity was diminished by 50%. Family studies indicated the presence of a defective allele with an overall gene frequency of 0.008. Immunologically cross-reacting material was found in red cells with low cytochrome b5 reductase activity. Leukocytes exhibited normal levels of enzyme in some families and low levels in others suggesting that at least two different deficient alleles at the DIA1 locus were present in the Algerian population. A higher prevalence of the deficient allele(s) was found in subjects of Kabyle origin.

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Correspondence to J. C. Kaplan.

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Reghis, A., Benabadji, M., Tchen, P. et al. Quantitative variations of red-cell cytochrome b5 reductase (NADH-methemoglobin-reductase) in the Algerian population. Hum Genet 59, 148–153 (1981). https://doi.org/10.1007/BF00293065

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Keywords

  • Internal Medicine
  • Blood Cell
  • Normal Level
  • Metabolic Disease
  • Quantitative Variation