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

摘要

Objective To reveal the prevalence and molecular characterization of (δβ)sup0/sup‐thalassemia [(δβ)sup0/sup‐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)sup0/sup‐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 supG/supγ(supA/supγδβ)sup0/sup‐thal. Nine (0.06%) were diagnosed with Southeast Asia HPFH (SEA‐HPFH) deletion. Seventy‐five (0.53%) cases remained uncharacterized. Three genotypes for Chinese supG/supγ(supA/supγδβ)sup0/sup‐thal and SEA‐HPFH deletion were identified, respectively. The genotype‐phenotype relationships were discussed. Conclusion Our study for the first time demonstrated that (δβ)sup0/sup and HPFH were not rare events, and molecular characterized supG/supγ(supA/supγδβ)sup0/sup‐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.