[Hereditary haemolytic anaemia due to pyruvate kinase deficiency. Prognosis of neonatal forms (author's transl)].
Published retrospective studies seem to indicate that neonatal haemolytic anaemia due to erythrocyte pyruvate kinase deficiency is followed by severe chronic haemolysis. In the present study 13 children from 11 different families, who developed haemolytic anaemia associated with pyruvate kinase deficiency during the first hours of life were followed up for periods of 1 to 10 years. In 4 children all signs of haemolysis disappeared within less than 6 months; genetic studies showed that they were heterozygous for the congenital deficiency. Among the remaining 9 children, all double heterozygous, 4 developed moderate, well tolerated haemolysis which did not require blood transfusions or splenectomy; 5 remained severely anaemic and required repeated transfusions and, in 3 cases, splenectomy. During the neonatal period there was no clinical, haematological or biological evidence that the prognosis would be different in these three groups of children. Only the genetic studies separated those who were simple heterozygous from the others. That only 5 of 13 children had severe chronic evolutive haemolytic anaemia suggests that the poor prognosis of neonatal haemolytic jaundice due to pyruvate kinase deficiency should be reconsidered.
D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011379:Prognosis; D011770:Pyruvate Kinase / Q000172:deficiency*; D013156:Splenectomy
D011770:Pyruvate Kinase
Anémie hémolytique héréditaire par déficit en pyruvate-kinase. Pronostic des formes néo-natales.