Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia

Content Provider	Scilit
Author	Trent, Rj Williams, Bg Kearney, A. Wilkinson, T. Harris, Pc
Copyright Year	1990
Description	The DNA deletion associated with an example of (epsilon gamma delta beta)zero thalassemia (Scottish-Irish type) was characterized. The deletion is approximately 205 kb in length and involves the epsilon, G gamma, A gamma, delta, and beta globin genes. The breakpoint is located 263 bp 3′ to exon 3 of the beta globin gene. An LI (KpnI) repeat element approximately 320 bp in size is found at the 3′ end of the novel DNA sequence. Different clinical phenotypes for three heterozygous neonates suggest that the deletion alone does not predict severity of (epsilon gamma delta beta)zero thalassemia at this age.
Related Links	https://ashpublications.org/blood/article-pdf/76/10/2132/603199/2132.pdf
Ending Page	2138
Page Count	7
Starting Page	2132
DOI	10.1182/blood.v76.10.2132.2132
Journal	Blood
Issue Number	10
Volume Number	76
Language	English
Publisher	American Society of Hematology
Publisher Date	1990-11-15
Access Restriction	Open
Subject Keyword	Medical Laboratory Technology Pediatrics and Child Health Thalassemia Beta Deletion Scottish Epsilon Gamma Delta Journal: Blood (Vol- 111, Issue- 10)
Content Type	Text
Resource Type	Article