Title: Approach to Paediatric Pancytopenia: When to Suspect Bone Marrow Failure
Author: Dr. Jac Sameer Atala Abdo
DOI: https://dx.doi.org/10.18535/jmscr/v13i09.07
Abstract
Pancytopenia in children is an uncommon but potentially life-threatening clinical presentation requiring timely evaluation to distinguish transient, reversible causes from inherited or acquired bone marrow failure (BMF) syndromes. Recent UK cohort studies highlight a substantial proportion of paediatric cases attributable to inherited BMF syndromes. This review presents a structured diagnostic and management approach, focusing on clinical features that raise suspicion for marrow failure and drawing upon recent UK epidemiological data, guidelines, and outcome reports. In UK paediatric series, approximately 23% of children with cytopenia had confirmed pancytopenia, and 37% of these were subsequently diagnosed with Fanconi anaemia via chromosomal breakage assays. Early referral, comprehensive laboratory evaluation, and targeted genetic testing remain central to optimising outcomes, with haematopoietic stem cell transplantation (HSCT) offering survival rates up to 90% in matched sibling donor settings.[1]
Keywords: Pancytopenia; Bone Marrow Failure; Fanconi Anaemia; Haematopoietic Stem Cell Transplantation; Paediatrics
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