6 Pathophysiology of sickle cell disease

Abstract

Sickle cell disease is caused by a mutation in the β-globin chain of the haemoglobin molecule. Sickle haemoglobin, the result of this mutation, has the singular property of polymerizing when deoxygenated. Exactly how normal tissue perfusion is interrupted by abnormal sickle cells is complex and poorly understood. Despite genetic identity at the site of the sickle haemoglobin mutation, all patients with sickle cell anaemia are not affected equally by this disease. Secondary genetic determinants and acquired erythrocyte and vascular damage are likely to be central components of the pathophysiology of sickle cell anaemia.