Genetically proven fanconi anemia: a case report

Rugmini Kamalammal, Divya Narayanan Kutty


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.  


Fanconi anemia, genetic mutations, molecular testing, FANCL gene

Full Text:



Andrea AD, Grompe M. The Fanconi anaemia/BRCA pathway. Nat Rev Cancer. 2003;3:23-34.

Fanconi G. Familiaere infantile perniziosaartige Anaemie (pernizioeses Blutbild und Konstitution). Jahrbuch Kinderheild. 1927;117:257-80.

Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res. 2009;668:11-9.

Ten l, Foe JR, Rooimans MA, Collins BL, Alon N, Wijker M, et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet. 1996;14:320-3.

Kutler DI, Singh B, Satagopan J. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101:1249-56.

Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J. The clinical and radiological features of Fanconi’s anaemia. Clin Radiol. 2000;55:340-5.

Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C. X-linked inheritance of Fanconi anemia complementation group B. Nat Genet. 2004;36:1219-24.

Wijker M, Morgan NV, Herterich S, Berkel CG, Tipping AJ, Gross HJ, et al. Heterogeneous spectrum of mutations in the Fanconi anemia group a gene. Eur J Hum Genet. 1999;7:52-9.

Morgan NV, Tipping AJ, Joenje H, Mathew CG. High frequency of large intragenic deletions in the Fanconi anemia group a gene. Am J Hum Genet. 1999;65:1330-41.

Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, et al. NISC comparative sequencing program. massively parallel sequencing, acgh, and rna-seq technologies provide a comprehensive molecular diagnosis of fanconi anemia. Blood. 2013;121(22):138-48.

Alina D. Acta Medica Marisiensis. 2014;60(3):125-8.

Andrea A. Susceptibility pathways in Fanconi anemia and breast cancer. N Engl J Med. 2010;362:1909-19.

Tischkowitz MD, Hodgson JSV. Fanconi anemia. J Med Genet. 2003;40:1-10.