Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster.
Publication
, Journal Article
Verhovsek, M; Shah, NR; Wilcox, I; Koenig, SC; Barros, T; Thornburg, CD; Steinberg, MH; Luo, H-Y; Chui, DHK
Published in: Pediatr Blood Cancer
November 2012
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.
Duke Scholars
Published In
Pediatr Blood Cancer
DOI
EISSN
1545-5017
Publication Date
November 2012
Volume
59
Issue
5
Start / End Page
941 / 944
Location
United States
Related Subject Headings
- beta-Globins
- Pregnancy
- Oncology & Carcinogenesis
- Multigene Family
- Infant, Newborn
- Infant
- Humans
- Gene Deletion
- Fetal Diseases
- Female
Citation
APA
Chicago
ICMJE
MLA
NLM
Verhovsek, M., Shah, N. R., Wilcox, I., Koenig, S. C., Barros, T., Thornburg, C. D., … Chui, D. H. K. (2012). Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster. Pediatr Blood Cancer, 59(5), 941–944. https://doi.org/10.1002/pbc.24094
Verhovsek, Madeleine, Nirmish R. Shah, Ibifiri Wilcox, Sara C. Koenig, Tiago Barros, Courtney D. Thornburg, Martin H. Steinberg, Hong-yuan Luo, and David H. K. Chui. “Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster.” Pediatr Blood Cancer 59, no. 5 (November 2012): 941–44. https://doi.org/10.1002/pbc.24094.
Verhovsek M, Shah NR, Wilcox I, Koenig SC, Barros T, Thornburg CD, et al. Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster. Pediatr Blood Cancer. 2012 Nov;59(5):941–4.
Verhovsek, Madeleine, et al. “Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster.” Pediatr Blood Cancer, vol. 59, no. 5, Nov. 2012, pp. 941–44. Pubmed, doi:10.1002/pbc.24094.
Verhovsek M, Shah NR, Wilcox I, Koenig SC, Barros T, Thornburg CD, Steinberg MH, Luo H-Y, Chui DHK. Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster. Pediatr Blood Cancer. 2012 Nov;59(5):941–944.
Published In
Pediatr Blood Cancer
DOI
EISSN
1545-5017
Publication Date
November 2012
Volume
59
Issue
5
Start / End Page
941 / 944
Location
United States
Related Subject Headings
- beta-Globins
- Pregnancy
- Oncology & Carcinogenesis
- Multigene Family
- Infant, Newborn
- Infant
- Humans
- Gene Deletion
- Fetal Diseases
- Female