Frequency and natural history of inherited bone marrow failure syndromes: The Israeli inherited bone marrow failure registry

Hannah Tamary*, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. RosenbergBlanche P. Alter

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition. Available single disease registries provide reliable information regarding natural history, efficacy and side effects of treatments, and contribute to the discovery of the causative genes. However, these registries could not shed light on the true incidence of the various syndromes. We, therefore, established an Israeli national registry in order to investigate the relative frequency of each of these syndromes and their complications. Design and Methods Patients were registered by their hematologists in all 16 medical centers in Israel. We included patients with Fanconi anemia, severe congenital neutropenia, Diamond-Blackfan anemia, congenital amegakaryocytic thrombocytopenia, dyskeratosis congenita, Shwachman-Diamond syndrome, and thrombocytopenia with absent radii. Results One hundred and twenty-seven patients diagnosed between 1966 and 2007 were registered. Fifty-two percent were found to have Fanconi anemia, 17% severe congenital neutropenia, 14% Diamond-Blackfan anemia, 6% congenital amegakaryocytic thrombocytopenia, 5% dyskeratosis congenita, 2% Shwachman-Diamond syndrome, and 2% thrombocytopenia with absent radii. No specific diagnosis was made in only 2 patients. Of the thirty patients (24%) developing severe bone marrow failure, 80% had Fanconi anemia. Seven of 9 patients with leukemia had Fanconi anemia, as did all 6 with solid tumors. Thirty-four patients died from their disease; 25 (74%) had Fanconi anemia and 6 (17%) had severe congenital neutropenia. Conclusions This is the first comprehensive population-based study evaluating the incidence and complications of the different inherited bone marrow failure syndromes. By far the most common disease was Fanconi anemia, followed by severe congenital neutropenia and Diamond-Blackfan anemia. Fanconi anemia carried the worst prognosis, with severe bone marrow failure and cancer susceptibility. Diamond-Blackfan anemia had the best prognosis. The data presented provide a rational basis for prevention programs and longitudinal surveillance of the complications of inherited bone marrow failure syndromes.

Original languageEnglish
Pages (from-to)1300-1307
Number of pages8
Issue number8
StatePublished - 2010


  • Fanconi anemia
  • Inherited bone marrow failure syndromes
  • Stem cell transplantation


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