title: A novel deletion of -2.8 kb removing the entire alpha 2-globin gene observed in a Chinese patient with Hb H.
abstract: Most of recognized alpha-thalassemia mutations include deletions of one or both alpha-globin genes. Here we describe a newly detected alpha-thalassemia-2 deletion characterized by a small 2.8 kb deletion involving the a 2 globin gene. This deletion has thus far been observed in one Chinese subject with hemoglobin H disease. Its breakpoints were detected to lie between coordinates 32485 and 35381 of the alpha-globin gene cluster (NG_000006.1), with a total of 2,894 nucleotides deleted. It was designated as -alpha2.8 deletion. The proband is a compound heterozygote deletion of -SEA and -alpha2.8, and the patient displayed very mild hemoglobin H disease phenotype with hemoglobin 9.8 g/dL.
authors.affiliation: Chongqing Medical University, Chongqing, China.
authors.forename: Zongping
authors.initials: Z
authors.lastname: Mo
authors.forename: Changshun
authors.initials: C
authors.lastname: Yu
authors.forename: Zhaohui
authors.initials: Z
authors.lastname: Hu
authors.forename: Wenli
authors.initials: W
authors.lastname: Feng
mesh_terms: D000328:Adult; D002681:China; D005260:Female; D017353:Gene Deletion; D006447:Hemoglobin H / Q000235:genetics*; D006801:Humans; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D006447:Hemoglobin H