Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study

Blood. 1994 Sep 1;84(5):1650-5.

Abstract

We analyzed data from 388 subjects with Fanconi anemia reported to the International Fanconi Anemia Registry (IFAR). Of those, 332 developed hematologic abnormalities at a median age of 7 years (range, birth to 31 years). Actuarial risk of developing hematopoietic abnormalities was 98% (95% confidence interval, 93% to 99%) by 40 years of age. Common hematologic abnormalities were thrombocytopenia and pancytopenia. These were often associated with decreased bone marrow (BM) cellularity (75% of cases studied). Clonal cytogenetic abnormalities developed in 23 of 68 persons with BM failure who had adequate studies. Actuarial risk of clonal cytogenetic abnormalities during BM failure was 67% (47% to 87%) by 30 years of age. Fifty-nine subjects developed myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Actuarial risk of MDS or AML was 52% (37% to 67%) by 40 years of age. Risk was higher in persons with than in those without a prior clonal cytogenetic abnormality (3% [0% to 9%] v 35% [0% to 79%]; P = .006). One hundred twenty persons died of hematologic causes including BM failure, MDS or AML and treatment related complications. Actuarial risk of death from hematologic causes was 81% (67% to 90%) by 40 years of age.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Bone Marrow / pathology
  • Child
  • Child, Preschool
  • Cytogenetics
  • Fanconi Anemia / blood*
  • Fanconi Anemia / mortality
  • Fanconi Anemia / pathology
  • Female
  • Hematologic Diseases / blood
  • Hematologic Diseases / epidemiology*
  • Hematologic Diseases / mortality
  • Humans
  • Infant
  • Infant, Newborn
  • International Agencies
  • Leukemia / epidemiology
  • Male
  • Myelodysplastic Syndromes / epidemiology
  • Pancytopenia / epidemiology
  • Registries
  • Risk Factors
  • Thrombocytopenia / epidemiology