An Alu Element-Mediated 28.5 kb alpha-Thalassemia Deletion Found in a Chinese Family

Over 95.0% of the alpha-thalassemia (alpha-thal) cases in southern China are caused by large deletions involving the alpha-globin gene. Here, we describe the molecular characterization of a novel 28.5 kb deletion that eliminated one of the duplicated alpha-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 (beta 4) disease in the offspring when in combination with another alpha(0)-thal allele, we should not ignore screening the deletion in prenatal diagnosis in order to decrease reproductive risk.http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000345306500009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=8e1609b174ce4e31116a60747a720701Biochemistry & Molecular BiologyHematologySCI(E)PubMed0ARTICLElzssc@yahoo.com6427-4303