Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 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.

PubMed Disclaimer

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

Similar articles

See all similar articles

Cited by

References

    1. Alayi, T. D. , Van Dorsselaer, A. , Epting, T. , Bisse, E. , & Schaeffer‐Reiss, C. (2014). Hb A2‐Konz [delta50(D1)Ser –> Thr; HBD: C.151T > A]: A new delta chain hemoglobin variant characterized by mass spectrometry and high performance liquid chromatography. Hemoglobin, 38(2), 133–136. 10.3109/03630269.2014.880063 - DOI - PubMed
    1. Amato, A. , Cappabianca, M. P. , Perri, M. , Zaghis, I. , Grisanti, P. , Ponzini, D. , & Di Biagio, P. (2014). Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: New and known gamma‐gene mutations associated with hereditary persistence of fetal hemoglobin. International Journal of Laboratory Hematology, 36(1), 13–19. 10.1111/ijlh.12094 - DOI - PubMed
    1. Amirian, A. , Jafarinejad, M. , Kordafshari, A. R. , Mosayyebzadeh, M. , Karimipoor, M. , & Zeinali, S. (2010). Identification of a novel delta‐globin gene mutation in an Iranian family. Hemoglobin, 34(6), 594–598. 10.3109/03630269.2010.528323 - DOI - PubMed
    1. Amirian, A. , Karimipoor, M. , Jafarinejad, M. , Taghavi, M. , Kordafshari, A. , Fathi Azar, S. , … Zeinali, S. (2011). First report on the co‐inheritance of beta‐globin IVS‐I‐5 (G–>C) thalassemia with delta globin CD12 {Asn–>Lys (AAT–>AAA)}HbA(2)‐NYU in Iran. Archives of Iranian Medicine, 14(1), 8–11. 011141/aim.003 - PubMed
    1. Bauer, D. E. , Kamran, S. C. , Lessard, S. , Xu, J. , Fujiwara, Y. , Lin, C. , … Keser, I. (2013). An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science, 342(6155), 253–257. 10.1126/science.1242088 - DOI - PMC - PubMed

Publication types

LinkOut - more resources