2 results match your criteria: "National Reference Center for Perinatal Hemobiology[Affiliation]"

Article Synopsis
  • * Genetic testing revealed an incompatibility in the HPA-4 system between the mother, father, and newborn, with confirmation of anti-HPA-4b antibodies indicating FNAIT.
  • * This case highlights the importance of genetic testing for HPA alleles in diverse populations and suggests a need for matching maternal serum with paternal platelets in suspected cases to improve
View Article and Find Full Text PDF
Article Synopsis
  • Pyruvate Kinase (PK) deficiency is a common enzyme defect that leads to congenital hemolytic anemia, often evident from birth.
  • A family with a history of PK deficiency underwent prenatal management for their third child after previous complications from the condition; ultrasound monitoring helped identify severe fetal anemia, resulting in two intrauterine red blood cell transfusions.
  • Successful treatment allowed the third child to be born healthy, emphasizing the importance of fetal monitoring and management in families with a diagnosed proband for PK deficiency.
View Article and Find Full Text PDF