title: Heterogeneity of the epsilon gamma delta beta-thalassaemias: characterization of three novel English deletions.
abstract: We have characterized three novel epsilon gamma delta beta-thalassaemia deletions in three English families. Two of the deletions, 114 and 439 kb, removed the entire beta-globin gene complex, including a variable number of flanking olfactory receptor (HOR) genes. The 98-kb deletion extended 90-kb upstream of the epsilon gene to 8 kb upstream of the G gamma-gene, leaving the gamma,delta and beta-genes intact. The 439 kb deletion is the largest deletion reported so far to cause epsilon gamma delta beta-thalassaemia; heterozygotes for this deletion were variably affected by neonatal haemolytic anaemia. Two of the deletions were de novo. Breakpoints of all three deletions occurred within regions of L1 or Alu repeats and contained short regions of direct homology between the flanking sequences, a feature that is likely to have contributed to the illegitimate recombinations.
authors.affiliation: Department of Haematological Medicine, Guy's Kings' & St Thomas' School of Medicine, King's College London, London SE5 9PJ, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Rooks
authors.forename: Jean
authors.initials: J
authors.lastname: Bergounioux
authors.forename: Laurence
authors.initials: L
authors.lastname: Game
authors.forename: James Paul
authors.initials: JP
authors.lastname: Close
authors.forename: Cameron
authors.initials: C
authors.lastname: Osborne
authors.forename: Steve
authors.initials: S
authors.lastname: Best
authors.forename: Tania
authors.initials: T
authors.lastname: Senior
authors.forename: Susan
authors.initials: S
authors.lastname: Height
authors.forename: Richard
authors.initials: R
authors.lastname: Thompson
authors.forename: Nedim
authors.initials: N
authors.lastname: Hadzic
authors.forename: Peter
authors.initials: P
authors.lastname: Fraser
authors.forename: Paula
authors.initials: P
authors.lastname: Bolton-Maggs
authors.forename: Swee Lay
authors.initials: SL
authors.lastname: Thein
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000145:classification* / Q000235:genetics; D002648:Child; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000145:classification* / Q000235:genetics*
chemical_list: D005914:Globins