Open Access

α‑thalassaemia combined with hereditary spherocytosis in the same patient

  • Authors:
    • Xiaohong Li
    • Lin Liao
    • Xuelian Deng
    • Jian Huang
    • Zengfu Deng
    • Hongying Wei
    • Wuning Mo
    • Faquan Lin
  • View Affiliations

  • Published online on: November 28, 2017     https://doi.org/10.3892/etm.2017.5579
  • Pages:1298-1303
  • Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

A family of four from the Guangxi Zhuang Autonomous Region of China, including a child with α‑thalassaemia and hereditary spherocytosis (HS), underwent laboratory identification, and genetic analysis. After harvesting peripheral blood samples from the child patient and his family members, GAP‑polymerase chain reaction (PCR) and reverse dot‑blot tests were used to identify thalassaemia genotypes. After amplifying exons and the adjacent introns of solute carrier family 4 member 1 (Diego blood group) (SLC4A1), ankyrin 1, spectrin α erythrocytic 1, spectrin β erythrocytic and erythrocyte membrane protein band 4.2 by PCR, DNA sequencing was utilised to detect gene mutations of HS. The thalassaemia gene of the child patient was ‑α3.7/αα and identical to the genotype of his mother. DNA testing of HS identified two mutation sites on the SLC4A1 gene: Exon 3 c.113A>C (Asp 38 Ala) and intron 7 c.609+86G>A. The father and older sister of the patient also had the same mutations. Due to the mutual interference with disorders of haemoglobin synthesis and erythrocyte membrane defects of laboratory results, it is difficult to diagnose HS when it coexists with thalassaemia. When clinical manifestations and laboratory results cannot be explained by a single haemolytic anaemia, the possibility of combining with another haemolytic anaemia should be considered. Thus, it is necessary to perform pedigree investigation and genetic analyses for a final diagnosis.

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February 2018
Volume 15 Issue 2

Print ISSN: 1792-0981
Online ISSN:1792-1015

2016 Impact Factor: 1.261
Ranked #50/128 Medicine Research and Experimental
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APA
Li, X., Liao, L., Deng, X., Huang, J., Deng, Z., Wei, H. ... Lin, F. (2018). α‑thalassaemia combined with hereditary spherocytosis in the same patient. Experimental and Therapeutic Medicine, 15, 1298-1303. https://doi.org/10.3892/etm.2017.5579
MLA
Li, X., Liao, L., Deng, X., Huang, J., Deng, Z., Wei, H., Mo, W., Lin, F."α‑thalassaemia combined with hereditary spherocytosis in the same patient". Experimental and Therapeutic Medicine 15.2 (2018): 1298-1303.
Chicago
Li, X., Liao, L., Deng, X., Huang, J., Deng, Z., Wei, H., Mo, W., Lin, F."α‑thalassaemia combined with hereditary spherocytosis in the same patient". Experimental and Therapeutic Medicine 15, no. 2 (2018): 1298-1303. https://doi.org/10.3892/etm.2017.5579