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<p>Fanconi anaemia (FA) is the most common inherited bone marrow failure disorder. It is characterised by genomic instability, diverse congenital abnormalities, progressive decline in haematopoiesis resulting in cytopenias, and a markedly increased risk of malignancy. The presentation is highly heterogeneous, ranging from overt dysmorphic features and early childhood bone marrow failure to subtle or absent anomalies with late-onset haematological or oncological complications. Haematological involvement typically manifests during the first decade of life, often beginning with macrocytosis and progressing to pancytopenia and aplastic anaemia. Approximately 60–70% of patients exhibit one or more congenital malformations, whereas others may present solely with haematological abnormalities. This phenotypic heterogeneity poses a significant diagnostic challenge, often resulting in delayed recognition and missed opportunities for early intervention. This chapter provides a comprehensive and up-to-date overview of the manifestations of FA, with particular emphasis on congenital anomalies and haematological features, along with their implications for diagnosis and management. Understanding the broad phenotypic spectrum of FA is essential for early detection, genetic counselling, and guiding therapeutic strategies, including haematopoietic stem cell transplantation (HSCT).</p>

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Clinical Features and Their Implications in the Diagnosis and Management of Fanconi Anaemia

  • 期刊论文

  • 发表日期：

    2026年8月4日

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  • Nikhil Nagpal,
  • Prisla Dalton,
  • Uttam Kumar Nath

摘要

Fanconi anaemia (FA) is the most common inherited bone marrow failure disorder. It is characterised by genomic instability, diverse congenital abnormalities, progressive decline in haematopoiesis resulting in cytopenias, and a markedly increased risk of malignancy. The presentation is highly heterogeneous, ranging from overt dysmorphic features and early childhood bone marrow failure to subtle or absent anomalies with late-onset haematological or oncological complications. Haematological involvement typically manifests during the first decade of life, often beginning with macrocytosis and progressing to pancytopenia and aplastic anaemia. Approximately 60–70% of patients exhibit one or more congenital malformations, whereas others may present solely with haematological abnormalities. This phenotypic heterogeneity poses a significant diagnostic challenge, often resulting in delayed recognition and missed opportunities for early intervention. This chapter provides a comprehensive and up-to-date overview of the manifestations of FA, with particular emphasis on congenital anomalies and haematological features, along with their implications for diagnosis and management. Understanding the broad phenotypic spectrum of FA is essential for early detection, genetic counselling, and guiding therapeutic strategies, including haematopoietic stem cell transplantation (HSCT).