Essential paediatric haematology by Owen P Smith; Ian M Hann

By Owen P Smith; Ian M Hann

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Clinical trials involving the introduction of retroviral vectors containing the b-glucocerebrosidase cDNA into bone marrow or stem cells are ongoing. Animal studies in Sly’s syndrome (mucopolysaccharidosis VII), where b-glucurondidase deficiency results in accumulation of sulphated glycosaminoglycans, has indicated that autologous fibroblasts transfected with appropriate vectors and transplanted in mice can correct the lysosomal storage problems and serve as a model for the human situation. Recent studies in the haemophilic dog model also suggest that gene therapy approaches may be useful in the treatment of this disorder in humans.

A crossover (genetic exchange of material) between these two regions results in inversion of the intervening sequences. Thus the factor VIII gene is divided into two parts, with an intact promoter and exons 1–22 greatly separated from and in the opposite orientation to exons 23–26 of the gene (C). TEL, telomere; CEN, centromere; E, exon. Factor V Leiden Factor V (FV) is a crucial component of the clotting cascade, and when it is cleaved to its active form FVa, it is involved in the pathway that leads to the generation of thrombin.

Studies in families presenting with VTE indicated that the presence of more than one mutation (FVL, G20210A) with or without the presence of environmental factors may increase the risk of thrombotic disease, and many thrombosis clinics now perform genetic testing for these two variants. MOLECULAR BASIS OF ACQUIRED GENETIC DISEASE Paediatric leukaemia Molecular pathology has greatly increased our knowledge of the involvement of genetic lesions in the pathogenesis of leukaemia. Leukaemia is an acquired genetic disorder as somatic mutations can be detected in the bone marrow or peripheral blood.

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