Inherited aplastic anaemia.
A number of inherited (constitutional/genetic) disorders are characterized by bone marrow (BM) failure/aplastic anaemia (AA) usually in association with one or more somatic abnormality. Occasionally, these patients may present with AA alone and be labelled to have idiopathic AA. In recent years, there have been significant advances in the genetics of Fanconi anaemia (FA), dyskeratosis congenita (DC) and other BM failure syndromes. This is facilitating accurate diagnosis and beginning to unravel their pathophysiology. Furthermore, these advances are also providing important insights into normal haemopoiesis and how this might become defective in some patients presenting with the more common idiopathic AA. Indeed, a link between DC and idiopathic AA and in turn to defective telomerase has now been established. This advance also suggests that treatments directed at correction of telomerase activity might benefit AA patients who do not respond to conventional therapy.
Dokal
Inderjeet
I
Department of Haematology, Imperial College, Hammersmith Hospital, London, England. i.dokal@ic.ac.uk
D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D018797:Cell Cycle Proteins / Q000235:genetics / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D002877:Chromosomes, Human / Q000648:ultrastructure; D041321:Chromosomes, Human, X / Q000235:genetics; D004303:Dosage Compensation, Genetic; D019871:Dyskeratosis Congenita / Q000097:blood / Q000150:complications / Q000628:therapy; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000628:therapy; D018740:Genetic Heterogeneity; D016298:Hematopoietic Cell Growth Factors / Q000627:therapeutic use; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D010110:Oxymetholone / Q000627:therapeutic use; D011239:Prednisolone / Q000627:therapeutic use; D019172:Transplantation Conditioning / Q000009:adverse effects
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D016298:Hematopoietic Cell Growth Factors; D009687:Nuclear Proteins; D011239:Prednisolone; D010110:Oxymetholone