Vignette #5: Siblings with Fanconi Anemia (FA)
A 15-year-old Mexican female diagnosed with idiopathic thrombocytopenia
at age 3 presented at age 10, along with her sister, with pancytopenia
and macrocytosis. Bone marrow failure workup was initiated for both
siblings that was suggestive of FA. Genetic testing revealed identical
rare frameshift variants in the FANCA gene previously reported in one
prior symptomatic patient10, and were therefore
considered likely pathogenic. Their genetic findings in association with
clinical presentation confirmed diagnoses of FA.
The older sibling underwent successful bone marrow transplant from an
unrelated 10/10 human leukocyte antigen (HLA)-matched donor and
continues to undergo post-transplant surveillance for FA-associated
complications. The younger sibling is being closely monitored but does
not yet meet criteria for stem cell transplantation.