Analysis of β-globin mutations shows stable mixed chimerism in patients with thalassemia after bone marrow transplantation

J. Kapelushnik, R. Or, D. Filon, A. Nagler, G. Cividalli, M. Aker, E. Naparstek, S. Slavin, A. Oppenheim

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


β-thalassemia major (TM) is caused by any of approximately 150 mutations within the β-globin gene. To establish the degree of chimerism after bone marrow transplantation (BMT), we have performed molecular analysis of β- globin mutations in 14 patients with TM over a period of 10 years. All patients underwent T cell-depleted allogeneic BMT from HLA-identical related donors, using either in vitro T-cell depletion with CAMPATH 1M and complement or in vivo depletion using CAMPATH 1G in the bone marrow collection bag. To date, at different time periods after BMT, seven patients have some degree of chimerism; six of these patients, all blood transfusion-independent, have donor cells in the range of 70% to 95%, with stable mixed chimerism (MC). The seventh patient has less than 10% donor cells with, surprisingly, only minimal transfusion requirements. The detection of β-globin gene point mutation, as used here, is a highly specific and sensitive marker for engraftment and MC in patients with thalassemia. In light of its specificity, the method is applicable in all cases of TM, as it is independent of sex and other non-globin-related DNA markers. The high incidence of MC found in our patients may be a consequence of the pre-BMT T-cell depletion. Because MC was associated with transfusion independence, complete eradication of residual host cells for effective treatment of TM and possibly other genetic diseases may prove not to be essential.

Original languageEnglish
Pages (from-to)3241-3246
Number of pages6
Issue number8
StatePublished - 15 Oct 1995
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


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