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.