Sickle Cell Disease is an inherited blood disorder, characterized primarily by chronic anemia and periodic episodes of pain. The underlying problem involves hemoglobin, a component of the red cells in the blood. The hemoglobin molecules in each red blood cell carry oxygen from the lungs to the body organs and tissues and bring carbon dioxide back to the lungs.
In Sickle Cell Disease the hemoglobin is defective. After the hemoglobin molecules give up their oxygen, some of them may cluster together and form long rod-like structures. These structures cause the red blood cells that are normally soft and donut shaped to become stiff, creating difficulty for the sickled red blood cells to pass freely through small blood vessels. This causes them to stack up and create blockages that deprive the organs and tissue of oxygen carrying blood. This process produces periodic episodes of pain and can ultimately damage the tissues and vital organs and lead to other serious medical problems.
Sickle cell disease was the first disease for which a specific molecular defect in a gene was identified, and it is the most common genetic disease identified as part of the Newborn Screening Program in the United States.
Sickle cell is most common in West and Central Africa where as many as 25% of the people have sickle cell trait and 1-2% of all babies are born with a form of the disease. In addition people of Hispanic, Native American, Caribbean, Asian, Mediterranean, Greek, Italian/Sicilian, Indian and Turkish ancestry are also affected.
In the United States with an estimated population of over 270 million, about 1,000 babies are born with sickle cell disease each year.