A clinicopathological study of fanconi anemia in a tertiary care centre in coastal India

Fanconi anaemia is a rare autosomal recessive disorder (birth incidence of 1 per 350000), characterized by chromosome instability that presents with a variety of congenital anomalies, progressive cytopenia, and susceptibility to the development of several malignancies. The study included cases that were diagnosed and treated at a tertiary care centre over a period of five years. The laboratory investigations including hemogram, peripheral smear, bone marrow aspirate and biopsy were correlated with the clinical, radiological and cytogenetic findings wherever available. A total of six cases of pancytopenia were confirmed to be Fanconi anaemia based on clinical, bone marrow and cytogenetic correlation (in two cases). Of the six cases studied, there were two pairs of siblings affected. The median age of diagnosis was six years of age. Of the six patients, three were males and three females. Bone marrow aspiration was done in all six cases and reported as hypoplastic marrow. Cytogenetic study was done in 2 of the cases which showed chromosomal breakage. Four out of the six had skeletal abnormalities. Three had organ abnormality with one having patent ductus arteriosis at birth, second case had multicystic dysplasia of bilateral kidneys and the third case had bilateral pelvic kidney. In the study, the patients presented with clinical features and haematological abnormalities suggestive of Fanconi anaemia with cytogenetic confirmation in 2 cases. Bone marrow failure resulted in death for four out of six patients.