An Alu Element-Mediated 28.5 kb α-Thalassemia Deletion Found in a Chinese Family. (December 2014)

• Record Type: Journal Article
• Authors: Yu, Jing; Xie, Jun; Luo, Liya; Li, Zesong
• Is Part Of: Hemoglobin. Volume 38:Number 6(2014)
• Page Start: 427
• Page End: 430
• Publication Date: 2014-12
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2014.976793
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>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 <italic>Alu</italic> 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 α⁰-thal allele, we should not ignore screening the deletion in prenatal diagnosis in order to decrease reproductive risk.</p> </abstract>