Phenocopy of Warfarin Syndrome in an Infant Born to a Mother With Sickle Cell Anemia and Severe Transfusional Iron Overload

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.

GSTM1 and Liver Iron Content in Children with Sickle Cell Anemia and Iron Overload

“…Iron overload is an inevitable complication of chronic erythrocyte transfusions because there is no physiological mechanism to eliminate the exogenous iron introduced by transfused erythrocytes. Iron deposits in target organs, including the liver and heart, cause organ dysfunction and, if untreated, may lead to organ failure [3,4]. Iron overload can be a significant problem in SCA [5].…”