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Related Subjects:
|Iron deficiency Anaemia
|Haemolytic anaemia
|Macrocytic anaemia
|Megaloblastic anaemia
|Microcytic anaemia
|Myelodysplasia
|Myelofibrosis
🧬 When diagnosing aplastic anaemia in a child, always consider Fanconi Anaemia if congenital malformations (e.g. absent or hypoplastic thumbs, radial anomalies on hand/forearm X-ray) are present.
⚠️ Do not confuse Fanconi Anaemia (genetic bone marrow failure) with Fanconi Syndrome (renal tubular dysfunction).
📖 About
🧪 Etiology
🧍 Clinical Features
🔍 Investigations
⚠️ Complications
🩺 Management
Fanconi Anaemia is a rare autosomal recessive (or X-linked) DNA repair disorder leading to chromosomal instability. Classic features include progressive bone marrow failure, congenital anomalies (radial ray defects, renal abnormalities, microcephaly), café-au-lait spots, and increased cancer risk. Patients often present in childhood with pancytopenia, but may also come to attention due to congenital anomalies. They are highly predisposed to acute myeloid leukaemia and squamous cell carcinoma of head/neck and genital tract. Diagnosis is via chromosomal breakage tests. Management includes supportive care, and the only curative therapy for marrow failure is allogeneic stem cell transplantation.