Hematologic Abnormalities in Fanconi Anemia: An International Fanconi Anemia Registry Study

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% confiden...

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Bibliographic Details
Published in:Blood 1994-09, Vol.84 (5), p.1650-1655
Main Authors: Butturini, Anna, Gale, Robert Peter, Verlander, Peter C., Adler-Brecher, Barbara, Gillio, Alfred P., Auerbach, Arleen D.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age Factors
Anemias. Hemoglobinopathies
Biological and medical sciences
Bone Marrow - pathology
Child
Child, Preschool
Cytogenetics
Diseases of red blood cells
Fanconi Anemia - blood
Fanconi Anemia - mortality
Fanconi Anemia - pathology
Female
Hematologic and hematopoietic diseases
Hematologic Diseases - blood
Hematologic Diseases - epidemiology
Hematologic Diseases - mortality
Humans
Infant
Infant, Newborn
International Agencies
Leukemia - epidemiology
Male
Medical sciences
Myelodysplastic Syndromes - epidemiology
Pancytopenia - epidemiology
Registries
Risk Factors
Thrombocytopenia - epidemiology
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Summary: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.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V84.5.1650.1650