Haematopoietic Stem Cell Transplantation in Autosomal Recessive Osteopetrosis

Autosomal recessive OP is the most severe form of a disease characterized by fragile but dense bones (Fig. 15.1), bone marrow collapse and serious neurological symptoms (Del Fattore et al. 2011). The disorder is often lethal in infancy or childhood, and mortality rates are high because of anaemia, thrombocytopenia and recurrent infections (Del Fattore et al. 2011).