Aplastic crisis revealing the diagnosis of Hb Evans [alpha62(E11)Val-->Met, GTG-->ATG (alpha2)] in a Hispanic kindred: case report and review

Hemoglobin. 2007;31(4):409-16. doi: 10.1080/03630260701590301.

Abstract

This report describes a Hispanic girl who presented in aplastic crisis due to parvovirus infection. She was subsequently found to have a chronic hemolytic anemia secondary to an unstable hemoglobinopathy. Genetic testing revealed that the girl and two symptomatic family members had Hb Evans [alpha62(E11)Val-->Met, GTG-->ATG (alpha2)], an unstable hemoglobin (Hb) variant due to a mutation in the alpha2-globin chain. Hb Evans has been described only once previously, in a Caucasian kindred. Literature review indicates aplastic crisis is a rare initial presentation of unstable hemoglobinopathies and that these disorders are infrequent but important causes of hemolytic anemia in Hispanic patients.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Anemia, Hemolytic / diagnosis
  • Anemia, Hemolytic / genetics*
  • Child
  • Family
  • Female
  • Hemoglobinopathies / diagnosis
  • Hemoglobinopathies / ethnology*
  • Hemoglobinopathies / genetics
  • Hemoglobins, Abnormal / analysis*
  • Hispanic or Latino*
  • Humans
  • Mutation
  • Parvoviridae Infections / complications
  • Parvovirus B19, Human

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Evans