title: An Alu element-mediated 28.5 kb α-thalassemia deletion found in a Chinese family.
abstract: Over 95.0% of the α-thalassemia (α-thal) cases in southern China are caused by large deletions involving the α-globin gene. Here, we describe the molecular characterization of a novel 28.5 kb deletion that eliminated one of the duplicated α-globin genes in a Chinese family. The deletion breakpoint fragment involved Alu repeat sequences, suggesting a homologous recombination event. Phenotypic analysis on the heterozygous carrier of this deletion revealed that it leads to a very mild phenotype. Because of a 25.0% risk of Hb H (β4) disease in the offspring when in combination with another α(0)-thal allele, we should not ignore screening the deletion in prenatal diagnosis in order to decrease reproductive risk.
authors.affiliation: Department of Laboratory Medicines, Peking University Shenzhen Hospital , Shenzhen , People's Republic of China .
authors.forename: Jing
authors.initials: J
authors.lastname: Yu
authors.forename: Jun
authors.initials: J
authors.lastname: Xie
authors.forename: Liya
authors.initials: L
authors.lastname: Luo
authors.forename: Zesong
authors.initials: Z
authors.lastname: Li
mesh_terms: D000293:Adolescent; D020087:Alu Elements; D001483:Base Sequence; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D059765:Homologous Recombination; D006801:Humans; D008297:Male; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins
keywords: Alu element; deletion; homologous recombination; α-globin gene; α-thalassemia (α-thal)