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. 2018 Mar;32(3):e22304.
doi: 10.1002/jcla.22304. Epub 2017 Aug 1.

The prevalence and molecular characterization of (δβ)0 -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

Sheng He  1 , Yuan Wei  1 , Li Lin  1 , Qiuli Chen  1 , Shang Yi  1 , Yangjin Zuo  1 , Hongwei Wei  1 , Chenguang Zheng  1 , Biyan Chen  1 , XiaoXia Qiu  1
Affiliations

The prevalence and molecular characterization of (δβ)0 -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

Sheng He et al. J Clin Lab Anal. 2018 Mar.

Abstract

Objective: To reveal the prevalence and molecular characterization of (δβ)0 -thalassemia [(δβ)0 -thal] and hereditary persistence of fetal hemoglobin (HPFH) in the Chinese Zhuang population.

Methods: A total of 105 subjects with fetal hemoglobin (Hb F) level ≥5% from 14 204 unrelated ones were selected for the study. Multiplex ligation dependent probe amplification was firstly used to analyze dosage changes of the β-globin gene cluster for associated with (δβ)0 -thal and HPFH mutations. The gap polymerase chain reaction was then performed to identify the deletions using the respective flanking primers. Hematologic data were recorded and correlated with the molecular findings.

Results: Twenty-one (0.15%) subjects were diagnosed with Chinese G γ(A γδβ)0 -thal. Nine (0.06%) were diagnosed with Southeast Asia HPFH (SEA-HPFH) deletion. Seventy-five (0.53%) cases remained uncharacterized. Three genotypes for Chinese G γ(A γδβ)0 -thal and SEA-HPFH deletion were identified, respectively. The genotype-phenotype relationships were discussed.

Conclusion: Our study for the first time demonstrated that (δβ)0 and HPFH were not rare events, and molecular characterized G γ(A γδβ)0 -thal and HFPH mutations in the Chinese Zhuang population. The findings in our study will be useful in genetic counseling and prenatal diagnostic service of β-thalassemia in this populations.

Keywords: (δβ)0-thalassemia; fetal hemoglobin; hereditary persistence of fetal hemoglobin; prevalence; β-globin cluster.

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Conflict of interest statement

The authors report no conflicts of interest.

Figures

Figure 1
Figure 1
Scheme of β‐globin gene cluster and the four deletions identified.17, 18, 19, 20, 32 LCR, locus control region; 3′HS‐1, 3′ DNase hypersensitive site 1
Figure 2
Figure 2
Characterization of the breakpoints of Chinese Gγ(Aγδβ)0‐thalassemia and SEA‐HPFH deletion by direct DNA sequencing. The GenBank coordinates of the two nucleotides flanking each deletion are indicated. NCBI Refseq nomenclature is indicated below. (A) Chinese Gγ(Aγδβ)0‐thal; (B) SEA‐HPFH deletion
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