title: Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster.
abstract: 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.
authors.affiliation: Hematology/Oncology, Department of Medicine, Boston University School of Medicine, Boston, MA, USA. verhovm@mcmaster.ca
authors.forename: Madeleine
authors.initials: M
authors.lastname: Verhovsek
authors.forename: Nirmish R
authors.initials: NR
authors.lastname: Shah
authors.forename: Ibifiri
authors.initials: I
authors.lastname: Wilcox
authors.forename: Sara C
authors.initials: SC
authors.lastname: Koenig
authors.forename: Tiago
authors.initials: T
authors.lastname: Barros
authors.forename: Courtney D
authors.initials: CD
authors.lastname: Thornburg
authors.forename: Martin H
authors.initials: MH
authors.lastname: Steinberg
authors.forename: Hong-yuan
authors.initials: HY
authors.lastname: Luo
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
mesh_terms: D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics* / Q000628:therapy; D005260:Female; D005315:Fetal Diseases / Q000235:genetics* / Q000628:therapy; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D005810:Multigene Family; D011247:Pregnancy; D055544:beta-Globins / Q000235:genetics*
chemical_list: D055544:beta-Globins