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Original research
Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family
  1. Sheng He1,
  2. Bolian Wang2,
  3. Shang Yi1,
  4. Zhenyan Huang2,
  5. Lifang Liang1,
  6. Zhenren Peng1,
  7. Pengshu Song1,
  8. Biyan Chen1,
  9. Faqin Chen3,
  10. Hongwei Wei1
  1. 1Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, China
  2. 2Department of Clinical Laboratory, Wuming Hospital Affiliated to Guangxi Medical University, Nanning, China
  3. 3Department of Laboratory Medicine, Youjiang Medical University for Nationalities, Baise, China
  1. Correspondence to Professor Hongwei Wei, Prevention Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Nanning, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, China; weihongwei1965{at}163.com

Abstract

Aims Hb Akron (HBB:c.158A>T) is a rare β-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia.

Methods Haematology and genetic analysis were performed in 9 members from a Chinese Zhuang ethnic family.

Results Hb Akron in various combinations with β0-thalassaemia and α0-thalassaemia were identified and characterised. Simple heterozygote for Hb Akron is asymptomatic, while the compound heterozygotes of Hb Akron associated with the β0-thalassaemia mutation generates a more severe haematological phenotype than Hb Akron or β0-thalassaemia mutation seen in isolation. The specific peak of Hb Akron appears at Zone D (195–225 s) in the state of heterozygote and compound heterozygote on haemoglobin capillary electrophoresis device, and the reduction of Hb Akron level in heterozygotes is proportional to the degree of α-globin gene deficiency.

Conclusions We have for the first time described the genetic and haematological characteristics of Hb Akron combined with different thalassaemia mutations, which will provide useful information for genetic counselling and prenatal diagnostic service of this mutation in a population with high prevalence of thalassaemia.

  • Anemia, Hemolytic
  • Diagnostic Techniques and Procedures
  • Pathology, Molecular
  • Thalassemia

Data availability statement

All data relevant to the study are included in the article.

https://doi.org/10.1136/jcp-2021-208133

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    Data availability statement

    All data relevant to the study are included in the article.

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    Footnotes

    • Handling editor Tahir S Pillay.

    • Contributors SH and BW designed this study and wrote the manuscript. SY and LL conducted all data analysis. ZH and ZP performed haematology tests. BC and PS helped in genetic tests. FC and HW helped perform the analysis with constructive discussions. HW is responsible for the overall content as the guarantor and correspond author.

    • Funding This work was supported by Natural Science Foundation of China (81760615), Natural Science Foundation of Guangxi (GuikeZy1949016 and Gui 14124004-1-5), the Health Department of Guangxi Province (S201613, S2021071 and ZJC202001) and Guangxi Medical High-level backbone Talents "139" Plan (G202003023).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.