Congenital familial erythrocytosis: A case report with literature review

Abstract

Familial erythrocytosis is a heterogeneous group of hereditary conditions with an increased total red blood cell volume. The disease occurs in a familial pattern and follows a relatively benign course. The absence of leukocytosis and thrombocytosis differentiates it from polycythemia vera. The best characterized primary erythrocytosis is the autosomal dominant primary familial and congenital polycythemia. In most families, erythrocytosis is due to abnormal hemoglobin with increased oxygen affinity. In other families, erythrocytosis is caused by an autonomous production of erythropoietin (EPO). EPO receptor gene mutations are also responsible for erythrocytosis when no secondary causes are apparent. Presented herein is a family with familial erythrocytosis possibly due to high autonomous production of EPO, which as per the literature is the first of its kind in the Indian context.

Keywords

• Abnormal haemoglobin
• congenital polycythemia
• erythrocytosis
• erythropoietin
• erythropoietin receptor
• gene mutation