Biomaterial Database

Diamond Blackfan anemia. 2011

Sarah Ball

St George's University of London, London, United Kingdom. sball@sgul.ac.uk

Mutations affecting genes encoding ribosomal proteins cause Diamond Blackfan anemia (DBA), a rare congenital syndrome associated with physical anomalies, short stature, red cell aplasia, and an increased risk of malignancy. p53 activation has been identified as a key component in the pathophysiology of DBA after cellular and molecular studies of knockdown cellular and animal models of DBA and other disorders affecting ribosomal assembly or function. Other potential mechanisms that warrant further investigation include impaired translation as the result of ribosomal insufficiency, which may be ameliorated by leucine supplementation, and alternative splicing leading to reduced expression of a cytoplasmic heme exporter, the human homolog of the receptor for feline leukemia virus C (FVLCR). However, the molecular basis for the characteristic steroid responsiveness of the erythroid failure in DBA remains unknown. This review explores the clinical and therapeutic implications of the current state of knowledge and delineates important but as-yet-unanswered questions.

UI	MeSH Term	Description	Entries
D009190	Myelodysplastic Syndromes	Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.	Dysmyelopoietic Syndromes,Hematopoetic Myelodysplasia,Dysmyelopoietic Syndrome,Hematopoetic Myelodysplasias,Myelodysplasia, Hematopoetic,Myelodysplasias, Hematopoetic,Myelodysplastic Syndrome,Syndrome, Dysmyelopoietic,Syndrome, Myelodysplastic,Syndromes, Dysmyelopoietic,Syndromes, Myelodysplastic
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia
D012270	Ribosomes	Multicomponent ribonucleoprotein structures found in the CYTOPLASM of all cells, and in MITOCHONDRIA, and PLASTIDS. They function in PROTEIN BIOSYNTHESIS via GENETIC TRANSLATION.	Ribosome
D016159	Tumor Suppressor Protein p53	Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.	p53 Tumor Suppressor Protein,Cellular Tumor Antigen p53,Oncoprotein p53,TP53 Protein,TRP53 Protein,p53 Antigen,pp53 Phosphoprotein,Phosphoprotein, pp53
D029503	Anemia, Diamond-Blackfan	A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)	Diamond-Blackfan Anemia,Anemia, Congenital Hypoplastic, Of Blackfan And Diamond,Anemia, Diamond-Blackfan Type,Blackfan Diamond Anemia,Blackfan-Diamond Disease,Blackfan-Diamond Syndrome,Chronic Congenital Agenerative Anemia,Congenital Erythroid Hypoplastic Anemia,Congenital Hypoplastic Anemia of Blackfan and Diamond,Congenital Pure Red Cell Anemia,Congenital Pure Red Cell Aplasia,Erythrogenesis Imperfecta,Hypoplastic Congenital Anemia,Inherited Erythroblastopenia,Pure Hereditary Red Cell Aplasia,Red Cell Aplasia, Pure, Hereditary,Anemia, Blackfan Diamond,Anemia, Diamond Blackfan,Anemia, Diamond Blackfan Type,Anemia, Hypoplastic Congenital,Anemias, Hypoplastic Congenital,Blackfan Diamond Disease,Blackfan Diamond Syndrome,Congenital Anemia, Hypoplastic,Congenital Anemias, Hypoplastic,Diamond Anemia, Blackfan,Diamond Blackfan Anemia,Diamond-Blackfan Type Anemia,Disease, Blackfan-Diamond,Erythroblastopenia, Inherited,Erythroblastopenias, Inherited,Erythrogenesis Imperfectas,Hypoplastic Congenital Anemias,Imperfecta, Erythrogenesis,Imperfectas, Erythrogenesis,Inherited Erythroblastopenias