Identification of a new 3.8kb deletional α thalassemia and detection of the deletion fragment / 南方医科大学学报

ABSTRACT

<p><b>OBJECTIVE</b>To report the identification of a novel 3.8-kb deletion that caused α thalassemia and establish the method for detecting the deletion fragment.</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and his mother for analysis of the hematological parameters and routine test for thalassemia genes. For the sample with an inconsistency between the genotyping results and phenotypic analysis results, a specific gap-PCR was employed to identify the rare or novel mutations.</p><p><b>RESULTS</b>A novel 3814-bp deletion causing α thalassemia was found in the proband and his mother, who had genotypes of -α4.2/-α3.8 and αα/-α3.8, respectively.</p><p><b>CONCLUSION</b>We identified a 3.8-kb deletion in the α-globin gene cluster that caused α thalassemia, and this finding enriches the α thalassemia gene mutation spectrum. Specific gap-PCR offers a convenient and efficient means for for detecting this deletion fragment.</p>