Rare case of hereditary aplastic anemia [Fanconis anemia]

Author(s): S. R. Agarkhedkar, Vineeta Pande, Sandeep Kuchi*, Yojana Sunkoj, P. V. Raghavaiah

Abstract

Fanconi anaemia is rare autosomal recessive disease characterized by pancytopenia, varied phenotypic abnormalities, hyperpigmentation and developmental delay1. It is diagnosed by Mitomycin C sensitive chromosomal fragility test of blood lymphocytes2. We are reporting a rare case of Fanconi anaemia in a 12-year-old child. She has grossly hyperpigmentation over face, tongue, neck, intertriginous area upper and lower limb. Elder sister also had hyperpigmentation all over the body. Peripheral smear revealed macrocytic hypochromic anaemia with few ovalocytes, leukopenia and thrombocytopenia with elevated red blood cell mean corpuscular volume. Fanconi anaemia was diagnosed by doing Mitomycin c stress cytogenetic test for Fanconis anaemia. Hematopoietic stem cell transplantation is the only curative therapy for the hematologic abnormalities in fanconi anaemia3.

10.21746/ijbio.2016.03.0013

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