Abstract
Fanconi anemia (FA), commonly inherited as an autosomal recessive trait, is the commonest cause of inherited bone marrow failure syndrome often accompanied by skeletal deformities, genitourinary abnormalities and an increased risk of malignancies especially acute myeloid leukemia. Haemoglobin E ((β26 Glu→Lys)) is common haemoglobin variant in the north-eastern part of India and the northern part of West Bengal. Here, we report a case of FA with concomitant haemoglobin E-trait in a 5-year-old child who presented with weakness, epistaxis, malaena and intermittent fever. She had a hyper-pigmented patch over the nape of neck and polydactyly. Complete blood counts revealed pancytopenia. The bone marrow aspiration and trephine biopsy showed marrow hypoplasia. Chromosome analysis showed chromatid and chromosome breaks in 22 % cells suggestive of FA. The results were corroborated with MMC stress test. Thus, we present the first reported case of FA with haemoglobin E-trait.