Biomaterial Database

Bone marrow transplantation for genetic disorders. 1990

J Barrett, and D McCarthy

Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.

In 1967, a congenital disorder, severe combined immune deficiency disease, (SCID), was the first condition to be successfully corrected by bone marrow transplantation (BMT) from a histocompatible matched sibling donor. Since then the number of inherited disorders in which BMT has been used has been greatly extended. In preface, it should be stressed that BMT represents only one aspect of the management of genetic disorders which includes first and foremost detection and prevention by antenatal screening. Enzyme replacement treatment and the development of genetic engineering techniques to correct the underlying fault are being actively explored. However, reliable screening programmes are only feasible in a minority of disorders, of which thalassaemia is an example. Enzyme replacement treatment has been largely unsuccessful, and despite considerable advances in the understanding of gene regulation, at present BMT represents the only practice capable of correcting genetic disorders and improving the quality of life of affected individuals.

UI	MeSH Term	Description	Entries
D007153	Immunologic Deficiency Syndromes	Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	Antibody Deficiency Syndrome,Deficiency Syndrome, Immunologic,Deficiency Syndromes, Antibody,Deficiency Syndromes, Immunologic,Immunologic Deficiency Syndrome,Immunological Deficiency Syndromes,Antibody Deficiency Syndromes,Deficiency Syndrome, Antibody,Deficiency Syndrome, Immunological,Deficiency Syndromes, Immunological,Immunological Deficiency Syndrome,Syndrome, Antibody Deficiency,Syndrome, Immunologic Deficiency,Syndrome, Immunological Deficiency,Syndromes, Antibody Deficiency,Syndromes, Immunologic Deficiency,Syndromes, Immunological Deficiency
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D006402	Hematologic Diseases	Disorders of the blood and blood forming tissues.	Blood Diseases,Hematological Diseases,Blood Disease,Disease, Blood,Disease, Hematologic,Disease, Hematological,Diseases, Blood,Diseases, Hematologic,Diseases, Hematological,Hematologic Disease,Hematological Disease
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014019	Tissue Donors	Individuals supplying living tissue, organs, cells, blood or blood components for transfer or transplantation to histocompatible recipients.	Organ Donors,Donors,Ovum Donors,Semen Donors,Transplant Donors,Donor,Donor, Organ,Donor, Ovum,Donor, Semen,Donor, Tissue,Donor, Transplant,Donors, Organ,Donors, Ovum,Donors, Semen,Donors, Tissue,Donors, Transplant,Organ Donor,Ovum Donor,Semen Donor,Tissue Donor,Transplant Donor
D016026	Bone Marrow Transplantation	The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.	Bone Marrow Cell Transplantation,Grafting, Bone Marrow,Transplantation, Bone Marrow,Transplantation, Bone Marrow Cell,Bone Marrow Grafting
D030342	Genetic Diseases, Inborn	Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.	Hereditary Diseases,Genetic Diseases,Genetic Disorders,Hereditary Disease,Inborn Genetic Diseases,Single-Gene Defects,Defect, Single-Gene,Defects, Single-Gene,Disease, Genetic,Disease, Hereditary,Disease, Inborn Genetic,Diseases, Genetic,Diseases, Hereditary,Diseases, Inborn Genetic,Disorder, Genetic,Disorders, Genetic,Genetic Disease,Genetic Disease, Inborn,Genetic Disorder,Inborn Genetic Disease,Single Gene Defects,Single-Gene Defect