Clinical profile of children with Fanconi anemia from a tertiary center in Southern India

Objectives: The aim of this study is to observe the clinical spectrum of presentation of Fanconi anemia (FA) in children presenting to the Hematology Department of Victoria Hospital, Bangalore Medical College and Research Institute. Materials and Methods: This observational study was carried out from February 2010 to December 2016 on all the 16 consecutive children <18 years of age, with FA. Those with high frequency of chromosomal breakage in G-banded metaphases from mitomycin-treated cultures were considered as positive cases. Results: The mean age at presentation was 6.79±1.34 years, but for those with dysmorphic featureson examination, it was 4.77±0.98 years. Symptoms of anemia were seen in 14 (87.5%) and of bleeding in 8 (50%) cases. There was a history of prolonged fever at presentation in 5 (31.2%) cases. Dysmorphic features on examination were seen in 10 (62.5%) cases. Short stature and microcephaly and microphthalmia were the most common features. Pancytopenia was seen in 68.7% of the subjects at presentation and anemia in 87.5% of cases while thrombocytopenia was universal (100%). The mean hemoglobin was 5.33±0.36 g/dL, mean white blood cell count was 3429.37±477.65/mm3, and mean platelet count was 28156.25±4199.44/mm3. The bone marrow was hypoplastic in 14 (87.5%). Pelvic kidney seen in 5 (31%) was the most common ultrasound finding. Parentalconsanguinity was seen in 50% of cases. Conclusion: Parental consanguinity was common, and there was a male preponderance in our study. The most common presenting manifestations were anemia followed by bleeding. Two-third of the patients had pancytopenia at diagnosis while thrombocytopenia was universal (100%). In the presence of a family history and/or dysmorphic features, even mono- or bi-cytopenias should be evaluated for inherited bone marrow failure syndromes.&nbsp