Abstract
Fanconi anemia (FA) is a genetically heterogenous rare autosomal recessive disorder. Mutations in FANCA gene are the most frequent among FA patients accounting for 60-65%. FA is characterised by congenital malformations, progressive bone marrow failure (BMF) and increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The risk of developing hematological abnormalities in FA patients is around 98% by 40 years of age. The risk of clonal cytogenetic abnormalities during BMF is around 67% by 30 years of age and risk of developing MDS or AML is 52% by 40 years of age. The frequent chromosomal abnormalities are 1q+, monosomy 7 and gains of 3q. Partial duplications/triplications of chromosome 1q are known to represent a nonrandom chromosomal anomaly in myeloid disorders.
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