Hemolytic Jaundice and Anemia with Methemoglobinemia in Dizygotic Newborn Twins with Hb Evans: Case Report.

Introduction: It is highly unusual for a newborn infant to present in the first days after birth with cyanosis secondary to methemoglobinemia and with hemolytic anemia and jaundice. This combination suggests the possibility of an unstable hemoglobin variant.

Case presentation: We describe dizygotic twins, both with this presentation, where whole genome sequencing identified hemoglobin Evans (a point missense substitution in HBA2, the alpha2-globin gene) and found no other co-inherited variants known to be associated with neonatal methemoglobinemia, jaundice, or anemia. Herein we report on four affected members of this family. We also review the six previously published reports of Hb Evans. We explain the pathogenesis and review available treatments.

Conclusion: Hb Evans might be more common than the small number of published cases would indicate. The presentation of neonatal cyanosis secondary to methemoglobinemia accompanied by hemolytic anemia and jaundice should raise the possibility of an unstable hemoglobin variant such as Hb Evans.