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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



  Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency

Hemolytic anemia (HA) of the newborn should be considered in cases of rapidly developing, severe, or persistent hyperbilirubinemia. Several causes of corpuscular hemolysis have been described, among which red blood cell enzyme defects are of particular concern. In June 15, 2016, Isabelle Signolet, Rachel Chenouard and others published an article in << American Academy of Pediatrics>>which title is “Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency”. Reported a case that the collapse of glutathione synthetase activity in erythrocytes can cause hemolytic anemia. Before this article, there are few article reported hemolytic anemia is connected with glutathione Synthetase Deficiency.

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