Sickle cell disease is a very common genetic disease especially in people of African and Mediterranean descent. It is also seen in people from South and Central America, the Caribbean, and the Middle East. It is extremely important to manage sickle cell disease properly because it can lead to significant disability and even death.
Approximately 70,000 – 100,000 individuals in the United States and especially in Harlem have sickle cell disease and 3 million have sickle cell trait.
What exactly is it and what causes it?
Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape whereas normal red blood cells look like a disc. Sickle cell anemia is caused by an abnormal type of hemoglobin (a protein inside red blood cells that carries oxygen to body’s tissues) called hemoglobin S. This particular hemoglobin distorts the shape of red blood cells, especially when the cells are exposed to low oxygen levels. The red blood cells become shaped like crescents or sickles. The fragile, sickle-shaped cells deliver less oxygen to the body’s tissues. Since these blood cell sickles, they do not transport easily in small blood vessels, and can disintegrate into pieces that disrupt normal blood flow.
Sickle cell anemia disease is genetic because it is inherited from both parents. If you inherit the hemoglobin S gene from one parent and normal hemoglobin (A) from your other parent, you will have sickle cell trait. People with sickle cell trait do not experience the symptoms of sickle cell anemia.
Click here to review Columbia University Medical Center’s program for infants with Sickle Cell.
How do you know you have it i.e. what are the signs and symptoms?
The most prominent symptom that sickle cell patient experience is very painful episodes called sickle cell crisis. These crises are the result of blocked blood vessels and decreased oxygen delivery to the tissues. These episodes can last for hours or days. Sometimes the episodes are so severe, hospitalization is required. These pain crises usually affect various bones of the body such as the wrists, long bones of the legs, back and chest. It can be quite debilitating. Some other symptoms include abdominal pain, fatigue, fever, paleness, ulcers on the lower legs (in adolescents and adults) , yellowing of the eyes and skin (jaundice), chest pain, excessive thirst, frequent urination, painful and prolonged erection (priapism – occurs in 10 – 40% of men with the disease), poor eyesight/blindness and strokes. Anemia due to low blood counts and heart murmurs are additional signs.
Click here to review Harlem Hospital report on Sickle Cell anemia.
What are the complications?
As noted above, sickle cell can be a life threatening disease so it’s extremely important to look for signs such as fever because that can signify bacterial infection or meningitis, headaches that can indicate a stroke or respiratory symptoms such as chest pain or difficulty breathing. One complication that we monitor very closely in the hospital is called acute chest syndrome which is a sickling crisis of the pulmonary or lung blood vessels. This results in breathing difficulty and is a very common cause of death in sickle cell patients. Medical management includes admission into an intensive care unit. Avascular necrosis is another complication which is bone death involving the joint due to loss of blood supply to the bone.
When a patient presents to the emergency room it is usually due to pain crisis. So in the majority of cases the goal of treatment is to manage and control symptoms and in the long run to limit the number of crisis. As a preventative measure, folic acid supplements should be taken as it is needed for red blood cells production. Some patients are placed on antibiotics to prevent infections because sickle cell patient’s spleens (one of its functions is to fight off infections) are usually non functional if it has not been removed.
If a crisis occurs, the most important measure to take is to ensure pain is controlled and this is usually done with the help of pain medication. Blood transfusion and increased fluid intake are other measures undertaken to manage a sickle cell crisis.
It is important to maintain good oxygen level and to prevent dehydration. This means to drink plenty of fluids, avoid strenuous activities, stress, high altitudes and other events that reduce your oxygen levels. It is also important to ward off infections, so that means keeping immunizations up to date and taking the appropriate antibiotics prescribed by your doctor.
Maintaining regular appointments with a hematologist is vital. This particular doctor specializes in blood disorders. He/she will monitor blood levels and you symptoms and make sure you are taking the correct medications.
Bone marrow or stem cell transplants can cure sickle cell anemia. However, they are current not an option for most patients. Sickle cell anemia patients are often unable to find well-matched donors.
For more information on sickle cell go to Sickle Cell Disease.
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