Abstract
Haematopoietic stem cell transplantation (HSCT) remains the best therapeutic option for many acquired and inherited paediatric haematological disorders. Unfortunately, the probability of finding an HLA matched donor is limited. An alternative technique is PGD combined with HLA matching, which offers the possibility of selecting unaffected embryos that are HLA compatible with the sick child, with the aim of possible use of stem cells from the resulting baby in future. Since the first successful report for Fanconi anaemia a decade ago, the therapeutic success of this technique was reported in a few cases and for a limited number of disorders. Here, we report full recovery of 44 sick children who received HSCT from healthy infants conceived after pre-implantation HLA matching for the following 10 indications; beta-thalassaemia, Wiskott–Aldrich syndrome, Fanconi anaemia, sickle cell anaemia, acute myeloid leukaemia, acute lymphoblastic leukaemia, Glanzmann's thrombasthaenia, Diamond–Blackfan anaemia, X-linked adrenoleukodystrophy and mucopolysaccharidosis type I. No serious complications were observed among recipients and donors. Graft failure occurred in four children with beta-thalassaemia where a second HSCT was planned. Preimplantation HLA matching is a reliable technique and provides a realistic option for couples seeking treatment for an affected child when no HLA-matched donor is available.
Highlights
Heamatopoietic stem cell transplantation (HSCT) remains the only curative treatment for many inherited and acquired paediatric haematological disorders, such as haemoglobinopathies, primary immunodeficiencies, metabolic disorders and bone marrow failure disorders.The success of HSCT depends on how well human leukocyte antigen (HLA) types of recipient and the donor match to each other
The follow up of families and siblings born after preimplantation HLA matching is crucially important for demonstrating the feasibility and success of this technique
The primary purpose of this study was to report 44 successful HSCT from HLA identical siblings conceived after preimplantation HLA matching, the largest case group ever reported from one centre
Summary
Heamatopoietic stem cell transplantation (HSCT) remains the only curative treatment for many inherited and acquired paediatric haematological disorders, such as haemoglobinopathies, primary immunodeficiencies, metabolic disorders and bone marrow failure disorders.The success of HSCT depends on how well HLA types of recipient and the donor match to each other. The probability of finding an HLA matched donor is limited. The chance of having an HLA identical sibling is about 15% (Pennings et al, 2002), and the chance of finding an unrelated donor through national and international registries is extremely small. Despite recent technical improvements (Yi et al, 2012), a high risk of severe complications still exists. These include graft versus host disease (GVHD) and unsuccessful engraftment in cases where HSCT from an unrelated donor is carried out (Gaziev et al, 2000; Lucarelli et al, 2012; Orofino et al, 2003)
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