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Screening for common β‐globin gene cluster deletions in Chinese individuals with increased hemoglobin F
Author(s) -
Cai W.J.,
Li J.,
Xie X.M.,
Li D.Z.
Publication year - 2015
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.12401
Subject(s) - multiplex ligation dependent probe amplification , gene cluster , genetics , biology , thalassemia , gene , microbiology and biotechnology , exon , alpha thalassemia , globin , gene duplication , genotype
Summary Introduction The aim of this study was to determine the prevalence of β‐globin gene cluster deletions in individuals with increased Hb F levels in a Chinese population. Methods Subjects with HbF levels ≥10% were selected for further investigation. Gap‐ PCR was used to screen for three common β‐globin gene cluster deletions: Chinese ( A γδβ) 0 ‐thalassemia, Southeast Asian ( SEA ) deletion and Hb Lepore. Multiplex ligation‐dependent probe amplification ( MLPA ) was used to analyze dosage changes of the β‐globin gene cluster for those not associated with one of the three common deletions. Results One hundred and thirty‐one individuals had an increased Hb F level; among these, 51 (38.9%) were showed to have Chinese ( A γδβ) 0 ‐thalassemia ( n = 37) or SEA deletion ( n = 14). A single case of Hb Lepore–Boston–Washington was detected. MLPA only detected 2 deletions in three cases of the remaining 80 patients. Gap‐ PCR confirmed that they included a 1357 bp β‐globin gene deletion ( NG _7.3:g.69997_71353del1357) in one case and a HBG 2‐ HBG 1 fusion gene consisting of exons 1 and 2 of HBG 2 ( G γ‐globin gene) and exon 3 of HBG 1 ( A γ‐globin gene) ( HBG 2:c.315 + 573_ HBG 1: c.315 + 572del) in two cases. Conclusion The Chinese ( A γδβ) 0 ‐thalassemia and SEA deletion are the most common large deletions of β‐globin gene cluster in Chinese. Gap‐ PCR for the detection of these two deletions should be used in thalassemia screening program in China where the incidence of β‐thalassemia is high.