Abstract

Primary familial and congenital polycythemia is a rare congenital disorder with only one case ever reported from Indian Subcontinent. Here, we are reporting an entire family inflicted with primary familial and congenital polycythemia, first ever of its kind from Indian subcontinent. We are of firm belief that our report would create awareness among medical fraternity in India about this under reported disorder.

Keywords: Primary familial and congenital polycythemia, erythropoietin, autosomal dominant, variable penetrance, sporadic, erythropoietin receptor, Chuvash polycythemia.