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.
This is a preview of subscription content, log in to check access.
Buy single article
Instant access to the full article PDF.
Price includes VAT for USA
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
This is the net price. Taxes to be calculated in checkout.
Choury D, Kaplan JC (1980) Diaphorase P: A new fetal isozyme identified in human placenta. Biochim Biophys Acta 613:18–25
Dreyfus JC (1972) Bases moléculaires des maladies enzymatiques génétiques. Biochimie 54:559–571
Hegesh E, Calmanovici N, Avron M (1968) New method for determining ferrohemoglobin reductase (NADH-methemoglobin reductase) in erythrocytes. J Lab Clin Med 72:339–344
Hopkinson DA, Corney G, Cook PJL, Robson EB, Harris H (1970) Genetically determined electrophoretic variants of human red-cell NADH-diaphorase. Ann Hum Genet 34:1–10
Jaffé ER (1981) Methemoglobinemia. In: Clinics in Haematology, vol 10, no 1: 99–122
Kaplan JC (1966) Méthode de measure rapide de méthémoglobine dans les globules rouges. Nouv Rev Fr Hematol 6:809–811
Kaplan JC, Beutler E (1967) Electrophoretic red-cell NADH and NADPH diaphorases in normal subjects and patients with congenital methemoglobinemia. Biochem Biophys Res Commun 29: 606–610
Kaplan JC, Leroux A, Bakouri S, Grangaud JP, Benabadji M (1974) La lésion enzymatique dans la méthémoglobinémie congénitale récessive avec encéphalopathie (Variante Béni-Messous). Nouv Rev Fr Hematol 173, no 6:755–770
Kaplan JC, Leroux A, Beauvais P (1979) Formes cliniques du déficit en cytochrome b5 réductase. CR Soc Biol 173:368–379
Leroux A, Junien C, Kaplan JC, Bamberger (1975) Generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation. Nature 258:619–620
Leroux A, Torlinski L, Kaplan JC (1977) Soluble and microsomal forms of NADH-cytochrome b5 reductase of human placeta. Similarity with NADH-methemoglobin reductase from human erythrocytes. Biochim Biophys Acta 481:50–62
Lostanlen D, Gacon G, Kaplan JC (1980) Direct enzyme titration curve of NADH-cytochrome b5 reductase by combined isoelectric focusing/electrophoresis. Eur J Biochem 112:179–183
Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265–275
Omura T, Takesue S (1970) A new method for simultaneous purification of cytochrome b5 and NADH-cytochrome reductase from rat liver microsomes. J Biochem (Tokyo) 67:249–257
Righetti PG, Krishnamoorty R, Gianazza E, Labie D (1978) Protein titration curve by combined isoelectric focusing-electrophoresis with hemoglobin mutants as models. J Chromatogr 166:455–460
Ross JD (1963) Deficient activity of DPNH-dependent methemoglobin diaphorase in cord blood erythrocytes. Blood 21:51–62
Scott EM, McGraw JC (1962) Purification and properties of diphosphopyridine nucleotide diaphorase of human erythrocytes. J Biol Chem 237:249–222
Zamudio I, Canessa M (1966) NADH-deshydrogenase activity of human erythrocyte membranes. Biochem Biophys Acta 120:105–109
Zjilstra WG, Von Kampen EJ (1961) Standardization of the hemoglobinometry: the hemoglobin cyanid method. Clin Chim Acta 6: 538–541
About this article
Cite this article
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
- Internal Medicine
- Blood Cell
- Normal Level
- Metabolic Disease
- Quantitative Variation