The clinical characteristics of autoimmune haemolytic anaemia/Evans syndrome patients with clonal immunoglobulin/T cell receptor gene rearrangement

Autoimmunity. 2020 Nov;53(7):394-399. doi: 10.1080/08916934.2020.1818231. Epub 2020 Sep 14.

Abstract

Objective: To investigate the clinical features of AIHA/ES patients with clonal Ig/TCR gene rearrangement.

Methods: Ig/TCR gene rearrangements were measured by BIOMED-2 PCR. 44 primary AIHA/ES patients were enrolled in the study. Clinical characteristics were analyzed and compared between patients with and without clonal Ig/TCR gene rearrangement.

Results: Clonal Ig/TCR rearrangements were identified in 34.09% (15/44) patients including 18.18% (8/44) clonal Ig rearrangement and 15.91% (7/44) clonal TCR rearrangement. 11.37% (5/44) patients showed TCR γ rearrangement, and 2.27% (1/44) patient showed β rearrangement. 2.27% (1/44) patient showed both γ and β chain rearrangement. The median ages of patients with Ig/TCR clonality (8 male and 7 female) and without Ig/TCR clonality (10 male and 19 female) were 60 (16 ∼ 81) and 53 (17 ∼ 78) years old, respectively. No significant differences were found in age or gender between the two groups (p = .26, p = .378). Hb and RBC of patients with Ig/TCR clonality [(64.31 ± 5.72) g/L, (1.78 ± 0.22) × 1012/L] were significantly lower than those of patients without Ig/TCR clonality (p = .0053 and p = .0189, respectively). The percentage of reticulocytes of Ig/TCR clonality group was obviously higher than that of patients without Ig/TCR clonality (p = .0248). No significant differences were found in levels of TBIL, IBIL, LDH, FHb, Hp, IgG, IgA, IgM, IgE, C3, C4, CD5+CD19+/CD19+ ratio, and CD3+CD4+/CD3+CD8+ ratio between the two groups. Treatment response of Ig/TCR clonality group occurred significantly later than that of the non-clonality group (p = .0016). There were no differences in relapse rate, time to recurrence, and duration of remission between two groups (p = .083, p = .72, and p = .61, respectively).

Conclusion: AIHA/ES patients with clonal Ig/TCR gene rearrangement presented more severe haemolysis and anaemia. Longer treatment is needed for these patients to obtain remission.

Keywords: Immunoglobulin; T cell receptor; autoimmune haemolytic anaemia; clinical characteristics; gene rearrangement.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Anemia, Hemolytic, Autoimmune / diagnosis*
  • Anemia, Hemolytic, Autoimmune / etiology*
  • Biomarkers
  • Female
  • Gene Rearrangement, B-Lymphocyte*
  • Gene Rearrangement, T-Lymphocyte*
  • Genes, T-Cell Receptor*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Immunoglobulins*
  • Immunophenotyping
  • Male
  • Middle Aged
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / etiology*
  • Young Adult

Substances

  • Biomarkers
  • Immunoglobulins

Supplementary concepts

  • Evans Syndrome