Hématologie
MENUDiamond-Blackfan anemia Volume 6, issue 2, Mars - Avril 2000
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- Key words: Diamond-Blackfan anemia, erythroblastopenia, ribosomal protein, haploinsufficiency.
- Page(s) : 143-9
- Published in: 2000
Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia, is an heterogeneous disease in terms of associated malformations, genetic inheritance and therapeutic outcome. The pathophysiology of DBA has been for long a matter of speculation. A genetic locus has been assigned to DBA on chromosome 19 (19q13.2). Subsequently mutations of a gene coding for the ribosomal protein RPS19 have been identified in 25 % of DBA patients. RPS19 is a highly conserved protein with yet unknown functions. A wide variety of mutations has been found, which span all along the coding sequence of the gene with a high spot of missense mutations between codon 52 and 62. Phenotypic expression and therapeutic outcome correlate neither with the presence or absence of mutation nor with the nature of the mutations. Moreover, in some dominant families apparently healthy members with a high erythrocyte adenosine deaminase level, defining a silent phenotype of the disease, can share the mutation with individuals affected by typical DBA. Further advances as well as the identification of other genes responsible for DBA will improve our knowledge in DBA pathophysiology and management and, hopefully, on ribosomal protein function, erythropoiesis and embryogenesis.