Hemoglobin H hydrops fetalis syndrome resulting from the association of the - -SEA deletion and the alphaQuong Szealpha mutation in a Chinese woman

Eur J Haematol. 2005 Sep;75(3):259-61. doi: 10.1111/j.1600-0609.2005.00493.x.

Abstract

A case with Hb H hydrops fetalis syndrome resulting from the association of the - -(SEA) deletion and the alpha(Quong Sze)alpha mutation is reported. This is the first description of Hb H hydrops associated with the Hb Quong Sze mutation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • China
  • Female
  • Gene Deletion*
  • Genetic Carrier Screening
  • Heart / embryology
  • Hemoglobin H / metabolism*
  • Humans
  • Hydrops Fetalis / blood
  • Hydrops Fetalis / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • Ultrasonography, Prenatal

Substances

  • Hemoglobin H