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The importance of β globin deletion analysis in the evaluation of patients with β thalassemia.

Abstract：

INTRODUCTION:Beta globin deletion/duplication analysis may serve as a useful adjunct to sequence analysis. Our purpose was to develop a robust assay for beta globin deletion/duplication analysis and determine its role in evaluating patients with beta thalassemia. METHODS:A single tube semi-quantitative fluorescent PCR assay capable of detecting deletions and duplications in the beta globin cluster and the associated locus control region (LCR) was developed and validated. RESULTS:Six hundred seventy one de-identified samples submitted for beta globin sequence analysis were tested for deletions and duplications of the beta globin 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 beta globin sequencing. Among the deletions detected, 11 (50%) involved only the beta globin 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 beta globin genes. One patient with a single deletion had Hb Lepore. CONCLUSION:Beta globin deletion/duplication analysis is necessary to correctly identify the genotype in some patients being evaluated for beta thalassemia.

journal_name

Int J Lab Hematol

journal_title

International journal of laboratory hematology

authors

Mikula M,Buller-Burckle A,Gallivan M,Sun W,Franklin CR,Strom CM

doi

10.1111/j.1751-553X.2010.01287.x

subject

Has Abstract

pub_date

2011-06-01 00:00:00

pages

310-7

issue

3

eissn

1751-5521

issn

1751-553X

journal_volume

33

pub_type

杂志文章

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