Abstract:
BACKGROUND:Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ-thalassemia and δ-thalassemia are rare inherited disorders which may complicate the diagnosis of β-thalassemia. The aim of this study was to reveal the frequency of these two disorders in Southwestern China. METHODS:A total of 33,596 subjects were enrolled for deletional HPFH/δβ-thalassemia, and positive individuals with high fetal hemoglobin (Hb F) level were diagnosed by multiplex ligation-dependent probe amplification (MLPA). A total of 17,834 subjects were analyzed for mutations in the δ-globin gene. Positive samples with low Hb A2 levels were confirmed by δ-globin gene sequencing. Furthermore, the pathogenicity and construction of a selected δ-globin mutation were analyzed. RESULTS:A total of 92 suspected cases with Hb F ≥5.0% were further characterized by MLPA. Eight different deletional HPFH/δβ-thalassemia were observed at a frequency of 0.024%. In addition, 195 cases suspected to have a δ-globin gene mutation (Hb A2 ≤2.0%) were characterized by molecular analysis. δ-Globin gene mutation was found at a frequency of 0.49% in Yunnan. The pathogenicity and construction for a selected δ-globin mutation was predicted. CONCLUSION:Screening of these two disorders was analyzed in Southwestern China, which could define the molecular basis of these conditions in this population.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Zhang J,Yang Y,Li P,Yan Y,Lv T,Zhao T,Zeng X,Li D,Zhou X,Chen H,Su J,Yang T,He J,Zhu Bdoi
10.1002/mgg3.706subject
Has Abstractpub_date
2019-06-01 00:00:00pages
e706issue
6issn
2324-9269journal_volume
7pub_type
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