The importance of b globin deletion analysis in the evaluation of XXXX with b thalassemia.

@entity1 @entity8674 @entity5358
INTRODUCTION: @entity5358 deletion/duplication analysis may serve as a useful adjunct to sequence analysis. Our purpose was to develop a robust assay for @entity5358 deletion/duplication analysis and determine its role in evaluating @entity1 with @entity8674 . METHODS: A single tube semi-quantitative fluorescent PCR assay capable of detecting deletions and duplications in the @entity5358 cluster and the associated locus control region (LCR) was developed and validated. RESULTS: Six hundred seventy one de-identified samples submitted for @entity5358 sequence analysis were tested for deletions and duplications of the @entity5358 cluster. Twenty-two deletions were detected (3%, 22/671). Seventeen of the 22 (82%) deletion samples were negative for mutations in the whole gene sequencing assay. For 5 of the samples, homozygous point mutations were inferred by @entity5358 sequencing. Among the deletions detected, 11 (50%) involved only the @entity5358 gene (5 covering the entire gene, 2 spanning the 5' end of the gene and 4 encompassing the 3' end of the gene). Ten samples (45%) were heterozygous delta-beta deletions spanning both the delta globin and @entity5358 genes. One @entity1 with a single deletion had Hb Lepore. CONCLUSION: @entity5358 deletion/duplication analysis is necessary to correctly identify the genotype in some @entity1 being evaluated for @entity8674 .
