J Clin Lab Anal. 2018;32:e22304. wileyonlinelibrary.com/journal/jcla
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The prevalence and molecular characterization of (δβ)
thalassemia and hereditary persistence of fetal hemoglobin in
the Chinese Zhuang population
Sheng He | Yuan Wei | Li Lin | Qiuli Chen | Shang Yi | Yangjin Zuo | Hongwei Wei |
Chenguang Zheng | Biyan Chen | XiaoXia Qiu
Prenatal Diagnosis Center, Guangxi Zhuang
Care Hospital, Nanning, China
XiaoXia Qiu and Biyan Chen, Prenatal
Diagnosis Center, Guangxi Zhuang
Care Hospital, Nanning, China.
Emails: firstname.lastname@example.org and
Natural Science Foundation of China,
Science Foundation of Guangxi, Grant/
Gui 14124004-1-5 and Gui 1598012-21;
Health Department of Guangxi Province,
Objective: To reveal the prevalence and molecular characterization of (δβ)
- thal] and hereditary persistence of fetal hemoglobin (HPFH) in the Chinese
unrelated ones were selected for the study. Multiplex ligation dependent probe ampli-
fication was firstly used to analyze dosage changes of the β- globin gene cluster for
associated with (δβ)
- 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
Nine (0.06%) were diagnosed with Southeast Asia HPFH (SEA-HPFH) deletion.
-thal and SEA-HPFH deletion were identified, respectively. The genotype-
phenotype relationships were discussed.
Conclusion: Our study for the first time demonstrated that (δβ)
and HPFH were not
rare events, and molecular characterized
- thal and HFPH mutations in the
Chinese Zhuang population. The findings in our study will be useful in genetic coun-
seling and prenatal diagnostic service of β- thalassemia in this populations.
-thalassemia, β-globin cluster, fetal hemoglobin, hereditary persistence of fetal hemoglobin,
1 | INTRODUCTION
The thalassemias (thals) are a group of inherited hemoglobic disorders
resulting from defects in the synthesis of one or more of the hemo-
globin chains.According tothe typeofglobin involved, thalassemia
can be divided into α- , β- , δβ- thal and hereditay persistence of fetal
Two types of the determinants for δβ- thal or
HPFH, namely, the deletional and nondeletional types, have been
classified on the basis of extensive molecular studies.
- thal and
HPFH are caused by large deletions in the β- globin cluster involving
δ- and β- globin genes, with or without
γ- globin genes.
tions are characterized by high fetal haemoglobin (Hb F) levels in adult.
Heterozygotes for δβ- thal have hypochromic microcytic red cells with
Homozygotes for (δβ)
- thal and compound heterozyotes for (δβ)
medium, provided the original work is properly cited and is not used for commercial purposes.