[Hemolytic anemias due to enzymopathies].
The most inherited enzymopathies associated with hemolytic anaemias are due to enzyme deficiencies (as a consequence of either synthesis reduction or impairement of the enzyme function). Such deficiencies can disturb some metabolism of the red cells. The most of enzyme deficiencies are involved in glycolysis that represents the main source of energy for this cell. Generally the genetic transmission of these enzymopathies is recessive autosomal with the exception of two cases (glucose 6-phosphate dehydrogenase and phosphoglycerate kinase) which are X-chromosome-linked. It stands to reason that the only treatment of these enzymopathies is dependent on gene therapy, a fine future method. Nevertheless prenatal diagnosis can be considered in some cases that display particularly severe symptoms.
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INSERM U 91, hôpital Henri-Mondor, Créteil.
D000745:Anemia, Hemolytic, Congenital / Q000209:etiology*; D004798:Enzymes / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009154:Mutation
D004798:Enzymes
Anémies hémolytiques par enzymopathies.