Sickle Cell Disease Overview

Sickle cell disease is a genetic disorder that causes substantial morbidities and mortality in millions of people around the world, including about 100,000 people in the United States and approximately 37,000 people in the European Union.  Sickle cell disease is associated with stroke, heart attack, autosplenectomy often complicated by overwhelming infection, pulmonary hypertension, kidney disease as well as premature death.  The average life expectancy of sickle cell disease patients in the US is only 42 years.

Patients with Sickle Cell Disease have abnormal hemoglobin, the oxygen-carrying protein in red blood cells. As red blood cells circulate and oxygen is released in the capillaries, hemoglobin in sickle cell disease patients polymerizes and forms long, rigid chains, deforming the red blood cells into a typically elongated “sickle” shape. These sickled red blood cells can block the circulatory system causing inflammation and limiting oxygen delivery to tissues and organs.  These sickled red blood cells also lyse, or break open, more easily, ultimately resulting in the release of the pro-inflammatory, pro-apoptotic molecule heme, resulting in further vascular blockage.  This is known as a “vaso-occlusive crisis” or “sickle cell crisis”.

Patients suffering from a sickle cell crisis experience severe pain and are at risk of multiple strokes, acute pulmonary failure, kidney disease and death.

Please see heme oxygenase in sickle cell disease for more information.

 

Sickle Cell Disease

 - Genetic disorder
 - Affects 137,000 people in the US/EU
 - Associated with major health issues
 - Life expectancy of  only 42 years

Sickled red blood cell Source: NIH

Sickled red blood cell
Source: NIH