Fetal anaemia due to pyruvate kinase deficiency.
Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three previous hydropic siblings had been stillborn or died in the neonatal period, this infant survived with transfusion dependent haemolytic anaemia. Prompt fetal diagnosis of pyruvate kinase deficiency is feasible and allows better management of hydrops fetalis due to this disorder.
Gilsanz
F
F
Hospital 12 de Octubre, Universidad Complutense, Division of Haematology, Madrid, Spain.
Vega
M A
MA
Gómez-Castillo
E
E
Ruiz-Balda
J A
JA
Omeñaca
F
F
D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011770:Pyruvate Kinase / Q000172:deficiency*
D011770:Pyruvate Kinase