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. 2019 Jun;7(6):e706.
doi: 10.1002/mgg3.706. Epub 2019 May 1.

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China

Jie Zhang  1   2   3   4 , Yang Yang  2   3 , Peng Li  2   3 , Yuanlong Yan  2 , Tao Lv  2 , Tingting Zhao  2 , Xiaohong Zeng  2 , Dongmei Li  2 , Xiaoyan Zhou  2 , Hong Chen  2 , Jie Su  2 , Tonghua Yang  4 , Jing He  2 , Baosheng Zhu  1   2   3
Affiliations

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China

Jie Zhang et al. Mol Genet Genomic Med. 2019 Jun.

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.

Keywords: bioinformatics analysis; capillary electrophoresis; hereditary persistence of fetal hemoglobin; δ-thalassemia.

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Conflict of interest statement

The author reports no conflict of interest in this work.

Figures

Figure 1
Figure 1
The 3D models of HBD:c.198G > T evaluated by SWISS‐MODEL and PyMol. (a) SWISS‐MODEL prediction of δ‐globin protein structure. Heme: protoporphyrin IX containing FE. (b) The structural environment of K65. The wild type structure of K65 (blue) and intermonomer contacts of four residues (D21, K61, A62 and G69). There was no evidence showing the involvement of K65 in any vital interactive network
See this image and copyright information in PMC

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