Bone Marrow Failure Syndromes in Children: Aetiology and Clinical Features at the Paediatric Haematology Clinic, ABUTH Zaria, North West Nigeria

This study characterises the aetiology, clinical features, and diagnostic challenges of bone marrow failure syndromes (BMFS) in children at the Paediatric Haematology Clinic of Ahmadu Bello University Teaching Hospital (ABUTH), Zaria, Kaduna State, North West Nigeria. Bone marrow failure in children encompasses acquired aplastic anaemia, Fanconi anaemia, Diamond-Blackfan anaemia, and other inherited syndromes, and its accurate diagnosis requires systematic evaluation that is challenging in resource-limited settings. A retrospective and prospective mixed design reviewed 75 paediatric BMFS cases (2019 to 2024) and enrolled new cases prospectively. Clinical presentation, haematological parameters, chromosomal fragility testing (DEB test for Fanconi anaemia), bone marrow histology, and flow cytometric PNH clone screening were performed. Acquired aplastic anaemia was the most frequent diagnosis (49.3%), followed by Fanconi anaemia (22.7%), transient erythroblastopenia of childhood (14.7%), and Diamond-Blackfan anaemia (8.0%). Fanconi anaemia diagnosis was confirmed in 62 percent of suspected cases only after DEB chromosome fragility testing, highlighting frequent clinical underdiagnosis. PNH clones were detected in 18 percent of aplastic anaemia cases. Transfusion dependence at presentation was the strongest predictor of mortality at 12 months. Immunosuppressive therapy was available for only 31 percent of eligible aplastic anaemia patients due to cost barriers. The study recommends systematic DEB testing, PNH screening, and an established supportive care protocol for BMFS at ABUTH Zaria. Keywords: bone marrow failure, aplastic anaemia, Fanconi anaemia, paediatric haematology, Zaria.