Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster.

Published

Journal Article

Fetal and neonatal hemolytic anemia can be caused by (γδβ)(0)-thalassemia deletions of the β-globin gene cluster. Many of these deletions have not been well characterized, and diagnostic tests are not readily available, thus hampering carrier detection, family counseling, and antenatal diagnosis. We report and define a 198 kb deletion removing the entire β-globin gene cluster, which was found in members of a multigeneration family of Irish/Scottish descent. The proband had life-threatening fetal and neonatal hemolytic anemia which subsided by 1 year of age.

Full Text

Duke Authors

Cited Authors

  • Verhovsek, M; Shah, NR; Wilcox, I; Koenig, SC; Barros, T; Thornburg, CD; Steinberg, MH; Luo, H-Y; Chui, DHK

Published Date

  • November 2012

Published In

Volume / Issue

  • 59 / 5

Start / End Page

  • 941 - 944

PubMed ID

  • 22294483

Pubmed Central ID

  • 22294483

Electronic International Standard Serial Number (EISSN)

  • 1545-5017

Digital Object Identifier (DOI)

  • 10.1002/pbc.24094

Language

  • eng

Conference Location

  • United States