Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia

Irma Dianzani, Emanuela Garelli, Caterina Dompè, Nicoletta Crescenzio, Franco Locatelli, Gino Schilirò, Giancarlo Castaman, Gian Paolo Bagnara, Nancy F. Olivieri, Vilma Gabutti, Ugo Ramenghi

Research output: Contribution to journalArticlepeer-review


Diamond-Blackfan anemia (DBA) is an inherited pure red blood cell aplasia that often requires lifelong transfusional support. The origin of the imperfect erythrogenesis is not known. The existence of more than one molecular basis for DBA is indicated by its different modes of inheritance and widely variable clinical phenotypes. Several erythroid growth factors have been thought to have a role in the pathogenesis of DBA. However, there is neither molecular nor clinical evidence for the involvement of stem cell factor or interleukin-3. The observation of elevated erythropoietin (EPO) concentrations and an impaired in vivo and in vitro response to pharmacologic doses of recombinant human EPO has suggested a defective EPO function in the pathogenesis of DBA. We have investigated the possible involvement of the EPO receptor (EPO-R) gene in 23 patients by screening its coding sequence for mutations using single-strand conformation polymorphism (SSCP). A Southern blot and hybridization with an EPO-R probe was also performed on DNA from seven patients. No causal mutations were identified. The absence of concordant segregation of the disease with the EPO-R gene in two informative families ruled out its role in their OBA children. These findings demonstrate that DBA is not commonly associated with EPO-R gene mutations.

Original languageEnglish
Pages (from-to)2568-2572
Number of pages5
Issue number6
Publication statusPublished - Mar 15 1996

ASJC Scopus subject areas

  • Hematology


Dive into the research topics of 'Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia'. Together they form a unique fingerprint.

Cite this