Sickle cell disease refers to a group of inherited blood diseases which can cause severe pain, damage to vital organs and for some, death in childhood or early adulthood. Sickle cell disease affects the oxygen-carrying protein inside the red blood cells called hemoglobin.

Sickle cell disease occurs when an individual inherits two sickle hemoglobin genes from both parents or a combination of one sickle hemoglobin gene and another abnormal hemoglobin gene from the parents.

In sickle cell disease, the red blood cells which are normally round in shape change to a distorted, rigid, sickled shape when oxygen is released from the red blood cell. The sickle cells are fragile and break apart easily. Because the sickle cells are stiff, they have difficulty traveling through the smallest blood vessels, causing blocked blood flow, and reduced oxygen supply. The blocked blood flow can cause pain and, over time, cause damage to the spleen, kidneys, brain, bones, and other organs. Kidney failure and heart failure may occur.

Although there is currently no cure for sickle cell disease, a few effective treatments and appropriate medical care have greatly improved survival and the quality of life for persons with sickle cell disease.


Causes

Sickle cell disease is not contagious. Children are born with sickle cell hemoglobin, which they inherit from their parents. Individuals may be carriers who have sickle cell trait or may actually have sickle cell disease. People who inherit only one sickle cell gene are carriers, but people who inherit two sickle cell genes have sickle cell disease.

Symptoms

There are many symptoms for sickle cell. Individuals with sickle cell may not experience all of these symptoms. The symptoms include: family history of sickle cell anemia, fatigue, breathlessness, rapid heart rate, delayed growth and puberty, susceptibility to infections, ulcers on the lower legs (in adolescents and adults) jaundice, attacks of abdominal pain, weakness, joint pain, fever, vomiting, bloody urination, excessive thirst, excessive penis pain, priapism, chest pain and decreased fertility.

Sudden pain throughout the body is a common and frequent symptom of sickle cell anemia. This pain is called a "sickle cell crisis." Sickle cell crises often affect the bones, lungs, abdomen, and joints.

The pain from sickle cell crises can be acute or chronic, but acute pain is more common. Acute pain is sudden and can range from mild to very severe. The pain usually lasts from hours to a few days. Chronic pain often lasts for weeks to months. Chronic pain can be hard to bear and mentally draining. This pain may severely limit your daily activities.

Almost all people who have sickle cell anemia have painful crises at some point in their lives. Some have these crises less than once a year. Others may have 15 or more crises in a year.

Sickle Cell Trait, Anemia and Disease: What is the Difference?

Sickle Cell Anemia is the most severe form of Sickle Cell Disease. Other Sickle Cell Diseases are: Sickle Cell Thalassemia, Sickle Cell C Disease, and any other abnormal hemoglobin combined with sickle hemoglobin.

Sickle cell trait is a genetic state, not a disease, and it cannot develop into SCD. Having the sickle cell trait does, however, increase the odds of producing a child with two copies of the hemoglobin S gene, who therefore who has sickle cell disease.

People with sickle cell disease either have sickle cell trait or sickle cell anemia. The difference between sickle cell trait and sickle cell anemia lies in the inheritance pattern of the sickle cell gene. As sickle cell is a genetic disorder, anyone whose parent has the gene for sickle cell disease has a chance of at least having sickle cell trait. However, both parents must have the sickle gene in order for a child to have sickle cell disease.


Treatment

Sickle cell anemia has no widely available cure. However, treatments can help relieve symptoms and treat complications. The goals of treating sickle cell anemia are to relieve pain; prevent infections, eye damage, and strokes; and control complications (if they occur). For anemia and to prevent stroke, blood transfusions may be used. Transfusions are also used to dilute the HbS with normal hemoglobin to treat chronic pain, acute chest syndrome, splenic sequestration, and other emergencies.

Iron Overload

As transfusion therapy has become more widely used in sickle cell anaemia treatment, iron overload has become more common. Patients who require frequent or intermittent transfusions are at an increased risk of iron overload. Patients with significant iron overload may develop signs of organ dysfunction. Cardiac effects are cardiomyopathy and conduction abnormalities. Hepatic effects include hepatomegaly, liver dysfunction, cirrhosis. All endocrine glands can be effected, but most commonly the pancreas (leading to diabetes mellitus), anterior pituitary (causing short stature and hypogonadism), parathyroid (causing hypocalcemia) and thyroid.

Who Are We?

The Ti-Gah Eye Foundation for Sickle Cell Disease has a vision and a mission. Founded in June of 2005, the mission and goal is to educate, empower and to provide for those who have inherited the disease and who are affected by the trait and disease. The national headquarters of Sickle Cell Disease Association of America is located in Baltimore, Maryland and associations, but currently in Washington, DC, Maryland, and Virginia there are no foundations for sickle cell disease.
Our goal is to provide literature, host seminars, provide counseling, conduct clinical screenings for all ages, and to provide hospital support. The Ti-Gah Eye Foundation plans to raise awareness on the impact sickle cell disease has on the economic, social and well being of the individuals with the disorder and his or her family members.