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Advances in hereditary red cell enzyme anomalies

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Conclusions

From the above report we can observe that recent advances in hereditary disorders of red cell enzymes concern molecular mechanisms of the defect and relationship between molecular anomalies and pathologic consequences. Moreover, congenital nonspherocytic hemolytic anemias of undertermined cause are becoming fewer.

It seems to us that the perspectives opened in this field could develop in two ways. Firstly, the current possibility of obtaining homogeneous mutant enzymes (for pyruvate kinase, glucose phosphate isomerase, glucose-6-phosphate dehydrogenase, phosphoglycerate kinase) should enable the study of the structure-function relationship, as was done for hemoglobin. Secondly, the recent progress in genetic analysis and genetic engineering could provide a direct approach of the nature of the genetic defect at the DNA level. This should be fundamental to understand the nature of some enzyme deficiencies without any detectable abnormal product of a mutant gene (e.g., glucose phosphate isomerase deficiencies with silent gene and M-type phosphofructokinase deficiency).

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  1. Institut de Pathologie Moléculaire, U.129 de l'INSERM, CHU Cochin, 24, rue du Faubourg Saint-Jacques, 75674, Paris Cedex 14, France

    A. Kahn, J. C. Kaplan & J. C. Dreyfus

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Kahn, A., Kaplan, J.C. & Dreyfus, J.C. Advances in hereditary red cell enzyme anomalies. Hum Genet 50, 1–27 (1979). https://doi.org/10.1007/BF00295584

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