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Successful hematopoietic SCT from non-identical twins to two sisters with β-thalassemia major by using preimplantation genetic diagnosis and HLA typing

Bone Marrow Transplantation volume 46, pages 1581–1582 (2011)Cite this article

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Current therapy protocols, including regular blood transfusion and chelation, have considerably increased the survival and quality of life for patients with thalassemia, although hematopoietic SCT (HSCT) still remains the only available curative option. However, only 25–30% of patients have an HLA-compatible family donor. Preimplantation genetic diagnosis (PGD) is a method for the diagnosis of genetic diseases in the early embryonic period so that implantation of affected embryos can be avoided, and the potential need for termination of pregnancy is eliminated in families who have genetic diseases. PGD also may offer an HLA-genoidentical sibling donor for an affected child. Recently, a few successful HSCTs have been reported in some genetic diseases using HLA-matched siblings born with PGD.1, 2, 3, 4 Here, we report, as the first case in the literature as far as we know, two HLA non-identical siblings with β-thalassemia major (TM) who underwent HSCT from dizygotic twin siblings born after PGD.

Case 1: A 15-year-old girl suffering from TM was admitted to our hospital for HSCT. She had been treated with regular RBC transfusions and chelation therapy. She was assigned to class II according to classification proposed by Pesaro group.5 She was treated with i.v. BU (12.8 mg/kg), CY (200 mg/kg) and anti-thymocyte globulin (ATG) (10 mg/kg/day for 3 days) as the conditioning regimen. GVHD prophylaxis was attempted by administering CsA and MTX. She underwent HSCT from her HLA-identical healthy brother using cord blood (CB) as well as BM as stem cell sources. The cell counts of the CB unit assessed before cryopreservation were 0.29 × 107 nucleated cells and 0.05 × 105 CD34+ cells per kg of recipient weight. Because of low-cell counts with expected risk of graft failure, BM from the same donor was used in addition to the CB unit. The number of infused nucleated cells was 0.15 × 107/kg, and CD34+ cell number was 0.024 × 105/kg. The viability of the cells in CB was 75%. The BM infused on the same day provided 2.1 × 108 nucleated cells/kg and 4.7 × 106 CD34+ cells/kg. She achieved successful neutrophil and platelet engraftment on day 15 and 25, respectively. The chimerism evaluations done by using interphase fluorescence in situ hybridization yielded 92% of donor cells at the end of first month after transplantation, increasing to 97% by the end of 6 months and to 100% by the end of first year. She has been continued as transfusion free without any complications with 18 months follow-up.

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Authors and Affiliations

  1. Department of Pediatric Hematology & Oncology, Akdeniz University School of Medicine, Antalya, Turkiye

    M A Yesilipek, G Karasu, V Uygun, M Akcan, A Kupesiz & V Hazar

  2. Department of Molecular Genetics, Private American Hospital, Istanbul, Turkiye

    N Erçelen

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  1. M A Yesilipek
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  2. G Karasu
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  3. N Erçelen
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  6. A Kupesiz
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  7. V Hazar
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Correspondence to M A Yesilipek.

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Yesilipek, M., Karasu, G., Erçelen, N. et al. Successful hematopoietic SCT from non-identical twins to two sisters with β-thalassemia major by using preimplantation genetic diagnosis and HLA typing. Bone Marrow Transplant 46, 1581–1582 (2011). https://doi.org/10.1038/bmt.2010.344

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