α‑thalassemia deletion [‑SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0CD17‑thalassemia mutation: A case report

  • Authors:
    • Hou Qian
    • Weifeng Li
    • Xiuhua Lin
    • Ji Xu
    • Xiaoli Zhang
    • Weihua Zhao
    • Yike Wu
    • Wenlan Liu
  • View Affiliations

  • Published online on: April 18, 2023     https://doi.org/10.3892/mmr.2023.12999
  • Article Number: 112
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Abstract

In the present study, an α‑thalassemia deletion [‑SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0CD17‑thalassemia mutation in a 15‑year‑old girl was identified by gap‑PCR, PCR‑reverse dot‑blot hybridization and multiplex ligation‑dependent probe amplification. Molecular analysis indicated that the proband's father carried a hemoglobin subunit β (HBB) heterozygous mutation in codon 17 (CD17; c.52A>T), the mother was a double heterozygous carrier of the Chinese Gγ+(Aγδβ)0‑thalassemia mutation combined with an ‑SEA deletion, and the proband inherited both mutations from her mother and father, thus carrying the Chinese Gγ+(Aγδβ)0CD17‑thalassemia combined with the‑SEA deletion in a compound heterozygous state. The proband was diagnosed as severe thalassemia intermedia and experienced a clinical phenotype aggravation (severe anemia and splenomegaly) from no obvious clinical symptoms to being dependent on monthly blood transfusions.
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June-2023
Volume 27 Issue 6

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Qian H, Li W, Lin X, Xu J, Zhang X, Zhao W, Wu Y and Liu W: α‑thalassemia deletion [‑<sup>SEA</sup> (Southeast Asian)] and a compound heterozygote for the Chinese <sup>G</sup>γ<sup>+</sup>(<sup>A</sup>γδβ)<sup>0</sup>/β<sup>CD17</sup>‑thalassemia mutation: A case report. Mol Med Rep 27: 112, 2023
APA
Qian, H., Li, W., Lin, X., Xu, J., Zhang, X., Zhao, W. ... Liu, W. (2023). α‑thalassemia deletion [‑<sup>SEA</sup> (Southeast Asian)] and a compound heterozygote for the Chinese <sup>G</sup>γ<sup>+</sup>(<sup>A</sup>γδβ)<sup>0</sup>/β<sup>CD17</sup>‑thalassemia mutation: A case report. Molecular Medicine Reports, 27, 112. https://doi.org/10.3892/mmr.2023.12999
MLA
Qian, H., Li, W., Lin, X., Xu, J., Zhang, X., Zhao, W., Wu, Y., Liu, W."α‑thalassemia deletion [‑<sup>SEA</sup> (Southeast Asian)] and a compound heterozygote for the Chinese <sup>G</sup>γ<sup>+</sup>(<sup>A</sup>γδβ)<sup>0</sup>/β<sup>CD17</sup>‑thalassemia mutation: A case report". Molecular Medicine Reports 27.6 (2023): 112.
Chicago
Qian, H., Li, W., Lin, X., Xu, J., Zhang, X., Zhao, W., Wu, Y., Liu, W."α‑thalassemia deletion [‑<sup>SEA</sup> (Southeast Asian)] and a compound heterozygote for the Chinese <sup>G</sup>γ<sup>+</sup>(<sup>A</sup>γδβ)<sup>0</sup>/β<sup>CD17</sup>‑thalassemia mutation: A case report". Molecular Medicine Reports 27, no. 6 (2023): 112. https://doi.org/10.3892/mmr.2023.12999