Erythrocyte disorders in the perinatal period

Semin Perinatol. 2007 Aug;31(4):254-61. doi: 10.1053/j.semperi.2007.05.003.


Anemia is a commonly encountered problem in the fetal and neonatal period, and can lead to significant morbidity and mortality. Intrinsic disorders of the erythrocyte, such as the hemoglobinopathies, enzyme deficiencies, and membrane defects are common causes of neonatal anemia. Genetic diseases that lead to decreased erythrocyte production, such as Diamond-Blackfan anemia, Schwachman-Diamond syndrome, and Congential Dyserythropoietic Anemia, are rare causes of perinatal anemia, but are important to recognize as they are often associated with other congenital abnormalities and require specialized treatment. This review focuses on the perinatal presentation and management of intrinsic erythrocyte disorders, as well as on the diagnosis and management of genetic conditions leading to erythrocyte underproduction.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Anemia / blood
  • Anemia / diagnosis
  • Anemia / therapy
  • Erythrocytes / physiology
  • Glucosephosphate Dehydrogenase Deficiency / complications
  • Hematologic Diseases* / blood
  • Hematologic Diseases* / diagnosis
  • Hematologic Diseases* / etiology
  • Hematologic Diseases* / therapy
  • Hemoglobinopathies / blood
  • Hemoglobinopathies / diagnosis
  • Hemoglobinopathies / therapy
  • Humans
  • Infant, Newborn
  • Pyruvate Kinase / deficiency


  • Pyruvate Kinase