A 4-year-old girl presents with progressive pallor, low-grade fever, and petechiae. CBC shows Hb 6.2 g/dL, WBC 2.1 × 10^9/L, platelets 18 × 10^9/L. Bone marrow biopsy shows hypocellular marrow with replacement by fat cells and reticulin. Fanconi anemia workup including chromosomal breakage test with diepoxybutane (DEB) is positive, showing increased chromosomal breaks. She has bilateral absent thumbs. What is the MOST appropriate curative treatment?
- A Androgens (danazol or oxymetholone)
- B Allogeneic hematopoietic stem cell transplantation (HSCT) from an HLA-matched sibling ✓
- C Immunosuppression with anti-thymocyte globulin (ATG) and cyclosporine
- D Granulocyte colony-stimulating factor (G-CSF)
Explanation
Fanconi anemia is an autosomal recessive DNA repair disorder (FANC gene mutations) characterized by congenital anomalies (radial ray defects — absent thumbs, radii), progressive bone marrow failure, and cancer predisposition. The definitive curative treatment is allogeneic hematopoietic stem cell transplantation (HSCT), which corrects the marrow failure but not the cancer predisposition. Importantly, reduced-intensity conditioning is used because Fanconi anemia patients have hypersensitivity to alkylating agents and radiation. Androgens provide temporary hematological improvement but are not curative. ATG/cyclosporine is used for acquired aplastic anemia, not Fanconi anemia.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.