Phenocopy of warfarin syndrome in an infant born to a mother with sickle cell anemia and severe transfusional iron overload

Yi Xie, Eniko K. Pivnick, Harris L. Cohen, Patricia E. Adams-Graves, Massroor Pourcyrous, Banu Aygun, Jane S. Hankins

Research output: Contribution to journalArticlepeer-review

Abstract

Neonatal chondrodysplasia punctata (CDP) is characterized by epiphyseal stippling and midfacial hypoplasia. CDP is usually inherited, but can be acquired because of maternal vitamin K deficiency. We describe an infant with CDP born to a teenager with sickle cell anemia and transfusional iron overload. The mother had severe liver fibrosis, elevated liver iron concentration (34 mg Fe/g), and coagulopathy, but no gestational use of warfarin. Fetal abnormalities were attributed to vitamin K deficiency secondary to liver dysfunction from iron toxicity. Treatment of iron overload among women with sickle cell anemia of childbearing potential is important to avoid possible CDP in newborns.

Original languageEnglish (US)
JournalJournal of Pediatric Hematology/Oncology
Volume35
Issue number6
DOIs
StatePublished - Aug 2013
Externally publishedYes

Keywords

  • choanal atresia
  • embryopathy
  • epiphyseal stippling
  • iron overload
  • pregnancy
  • sickle cell disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology

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