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January 1, 1988American Journal of Medical Genetics

Cord blood study on β‐thalassemia and hemoglobin E

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Authors

SPS. PootrakulMinistry of Public HealthVMVanna Muang‐supSiriraj HospitalSFSuthat FucharoenMahidol University

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Implication

Observational study reveals neonatal cord blood profiling identifies beta-thalassemia and hemoglobin E variants in newborns, indicating early diagnostic feasibility via red cell screening.

Key Points

  • Determine whether neonatal cord blood hematological evaluation, red cell osmotic fragility, and hemoglobin electrophoresis can accurately diagnose beta-thalassemia and hemoglobin E variants at birth.
  • Evaluated cord blood hematological indices, red cell osmotic fragility, cell morphology, and starch gel electrophoresis in 18 newborn infants with follow-up confirmation.
  • Sample included 10 offspring of parents with beta-thalassemia/Hb E disease and 8 infants identified by decreased red cell osmotic fragility during random cord blood screening.
  • Identified Hb E heterozygosity in 2 infants and beta-thalassemia heterozygosity in 11 infants, whose cord blood showed significantly increased red cell counts and decreased MCH compared to normal infants.
  • Detected one case of homozygous beta-thalassemia and differentiated four infants presenting with 4–7% Hb E and Hb F into homozygous Hb E (n=2) and double heterozygous beta-thalassemia/Hb E disease (n=2) upon follow-up.

Cite This Study

Pootrakul et al. (1988) studied this question.

synapsesocial.com/papers/6aa5f2c56a6f69d61978ede6https://doi.org/10.1002/ajmg.1320290107
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Also Consider

Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Hematologic Problems in the Newborn.1973 · 6 citations
  2. 2Studies on Abnormal Hemoglobins1951 · 987 citations