Hematology (Dec 2024)

HbA2:c.96-2A > G mutation: report of 7 cases in China

  • Xiao-Hua Yu,
  • Yi-Yuan Ge,
  • Xiao-Min Ma,
  • Guang-Kuan Zeng,
  • Yu-Wei Liao,
  • Li-Li Liu,
  • Yan-Bin Cao,
  • Jian-Lian Liang,
  • Bai-Ru Lai,
  • Yan-Qing Zeng,
  • Yu-Chan Huang,
  • Li-Ye Yang

DOI
https://doi.org/10.1080/16078454.2024.2426829
Journal volume & issue
Vol. 29, no. 1

Abstract

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Objective: To analyze the hematological phenotype and genotype of HbA2: c.96-2A > G carriers.Methods: The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing.Results: Among the 7 patients, one adult patient had normal hemoglobin levels, with slightly decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). Hb Bart's band was found in 6 neonates by hemoglobin electrophoresis, of which the content of Hb Bart's band in 1 neonate was 15.80%, and the content of Hb Bart's band in the other 5 neonates was 0.30%–0.90%. The results of genetic analysis showed that all the 7 patients had HbA2: c.96-2A > G (IVS-I-116A > G) mutation, in which 1 case was compounded with – SEA deletion.Conclusion: HbA2: c.96-2A > G mutation carriers exhibit the phenotype of α-thalassemia, and when the HbA2:c.96-2A > G mutation is combined with – SEA deletion, an intermediate phenotype of anemia is produced.

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