SHM Converge Scientific Abstract ePoster Gallery-"Unveiling Fanconi Anemia: A Captivating Case Report in a Servicemember"

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This case report describes a rare presentation of Fanconi anemia (FA) in a 19-year-old U.S. Marine who presented with profound fatigue and severe macrocytic anemia, with an initial hemoglobin of 2.5 g/dL. Although transfusion improved his hemoglobin, persistent symptoms led to further evaluation. Physical examination showed features suggestive of an inherited syndrome, including short stature, midface hypoplasia, and café-au-lait spots.<br /><br />Bone marrow biopsy and cytogenetic testing demonstrated myelodysplastic syndrome (MDS) with ring sideroblasts, low blasts, and complex chromosomal abnormalities. Molecular testing also identified an SF3B1 variant, which is often associated with ring sideroblasts and a more favorable MDS prognosis. Subsequent genetic analysis revealed variants in the FANCA gene, supporting a diagnosis of Fanconi anemia, an autosomal recessive disorder characterized by defective DNA repair, bone marrow failure, congenital anomalies, and increased cancer risk.<br /><br />The report emphasizes that FA can present atypically, especially when coexisting mutations such as SF3B1 may alter the clinical picture and potentially delay recognition. It also highlights elevated G6PD activity found during routine servicemember screening as a possible clue to underlying hematologic disease. Because FA significantly increases the risk of MDS and acute myeloid leukemia, early diagnosis is critical.<br /><br />The patient is being evaluated for allogeneic hematopoietic stem cell transplantation, the definitive treatment for marrow failure in FA. This case underscores the importance of considering inherited bone marrow failure syndromes in young patients with unexplained cytopenias, dysmorphic features, or unusual marrow findings.

Asset Subtitle

Gabriel Quinones-Medina

Meta Tag

Author List Gabriel Quinones-Medina, Peter A. Beale, Shira R. Paul

Category Clinical Vignettes

Concept Fanconi Anemia

Concept Bone marrow failure

Concept DNA Repair Defect

Concept Chromosomal Breakage Test

Concept Inheritance Pattern

Distinguished Non-Finalist

Presenter Organization Naval Medical Center Portsmouth

Presenting Author Gabriel Quinones-Medina

Track Adult

Keywords

Fanconi anemia

myelodysplastic syndrome

macrocytic anemia

FANCA gene

SF3B1 variant

ring sideroblasts

bone marrow failure

allogeneic stem cell transplantation

cytogenetic abnormalities

acute myeloid leukemia risk

Fanconi Anemia

Bone marrow failure

DNA Repair Defect

Chromosomal Breakage Test

Inheritance Pattern