A rare case of pancytopenia

Abstract

Pancytopenia is a reduction in all the three peripheral blood cell lineages and presents as anemia, leukopenia, and thrombocytopenia. Aplastic anemia is pancytopenia with bone marrow hypocellularity. Aplastic anemia can be constitutional or acquired. Genetic diseases such as Fanconi anemia and dyskeratosis congenita usually present as pancytopenia with typical physical anomalies and are usually seen in early childhood. Fanconi anemia is a rare cause of pancytopenia, which is an autosomal recessive disorder and manifests as progressive pancytopenia with congenital developmental anomalies and an increased risk of malignancy. Here, we present a case of Fanconi anemia who presented with pancytopenia, short stature, and hypoplastic thumb of the right hand and was diagnosed on the basis of bone marrow biopsy and chromosomal breakage test.