Case Report: A rare case of Fanconi anaemia

Abstract

Fanconi anaemia (FA) is autosomal recessive but can also be an autosomal dominant or X-linked recessive disease. In India, Fanconi anaemia is a very rarely seen disorder. Clinical findings in FA include pancytopenia, hyperpigmentation or hypopigmentation, skeletal anomalies, small stature or growth retardation, endocrine abnormalities, anal atresia, deafness, malignancy of head and neck, and it has a tendency to run in families. Diagnosis of FA can be made on clinical findings and laboratory examination. Recommended prenatal testing like chorionic villus sampling and amniocentesis. Androgen therapy and hematopoietic stem cell transplantation (HSCT) are treatment modalities recommended for FA. Follow-up of all diagnosed FA patients is essential throughout their lifetime. Having a healthcare team with diverse expertise is vital in preventing anemia and malignancy. A meticulous plan and unwavering support are also crucial. Outcomes of FA patients is desolate due to complications associated with it. Our aim of the study is to increase awareness among physicians about the presence of such rare diseases. Well-timed diagnosis with appropriate treatment is needed to prevent complication.