Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F

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...

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Bibliographic Details
Published in:International journal of laboratory hematology 2015-12, Vol.37 (6), p.752-757
Main Authors: Cai, W.-J., Li, J., Xie, X.-M., Li, D.-Z.
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group - genetics
beta-Globins - genetics
beta-Thalassemia - diagnosis
beta-Thalassemia - epidemiology
beta-Thalassemia - genetics
China
deletion
Erythrocyte Indices
Female
Fetal Hemoglobin - genetics
Genetics, Population
HPFH MLPA
Humans
Male
Molecular Typing - methods
Multigene Family
Sequence Deletion
β-thalassemia
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Summary: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 (Aγδβ)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 (Aγδβ)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_000007.3:g.69997_71353del1357) in one case and a HBG2‐HBG1 fusion gene consisting of exons 1 and 2 of HBG2 (Gγ‐globin gene) and exon 3 of HBG1 (Aγ‐globin gene) (HBG2:c.315 + 573_HBG1: c.315 + 572del) in two cases. Conclusion The Chinese (Aγδβ)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.
ISSN:1751-5521
1751-553X
DOI:10.1111/ijlh.12401