Genetically proven fanconi anemia: a case report


  • Rugmini Kamalammal Department of Pediatrics, Adichunchanagiri Institute of Medical Sciences, Karnataka, India
  • Divya Narayanan Kutty Department of Pediatrics, Adichunchanagiri Institute of Medical Sciences, Karnataka, India



Fanconi anemia, genetic mutations, molecular testing, FANCL gene


Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by congenital malformations, haematological problems and predisposition to malignancies. It was first described by Guido Fanconi, a Swiss Paediatrician in 1927. The prevalence of FA is 1 to 5 cases per million.The genes that have been found to be mutated in FA patients are called FANC. 16 different FANC genes have been reported, among which 60-65% account for the mutations seen in FANCA genes which is the most frequently seen in FA patients. The disease is most commonly seen in children between 5-15 years. Diagnosis is based on the congenital physical abnormalities and confirmed by genetic testing. Here we report a rare case of Fanconi Anemia in a 4 year old female child with the characteristic clinical findings and the diagnosis was confirmed by genetic studies.  


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