PRESENTATION OUTLINE
Sickle cell anemia is a disease passed down through families. The red blood cells which are normally shaped like a disc take on a sickle or crescent shape. Red blood cells carry oxygen to the body.
Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen.
Symptoms usually do not occur until after the age of 4 months.
Almost all people with sickle cell anemia have painful episodes called crises. These can last from hours to days. Crises can cause pain in the lower back, leg, joints, and chest.
Some people have one episode every few years. Others have many episodes each year. The crises can be severe enough to require a hospital stay.
Younger children with sickle cell anemia have attacks of abdominal pain.
The following symptoms may occur because small blood vessels become blocked by the abnormal cells:
Painful and prolonged erection (priapism)
Poor eyesight or blindness
Problems with thinking or confusion caused by small strokes
Ulcers on the lower legs (in adolescents and adults)
becomes more severe, symptoms may include:
Fatigue
Paleness
Rapid heart rate
Shortness of breath
Yellowing of the eyes and skin (jaundice)
Over time, the spleen stops working. As a result, people with sickle cell anemia may have symptoms of infections such as:
Bone infection (osteomyelitis)
Gallbladder infection (cholecystitis)
Lung infection (pneumonia)
Urinary tract infection
Other signs and symptoms include:
Delayed growth and puberty
Painful joints caused by arthritis
Heart failure due to too much iron (from blood transfusions)
Exams and Tests
Tests commonly done diagnose and monitor patients with sickle cell anemia include:
Bilirubin
Blood oxygen saturation
Complete blood count (CBC)
Hemoglobin electrophoresis
Serum creatinine
The goal of treatment is to manage and control symptoms, and to limit the number of crises. People with sickle cell disease need ongoing treatment, even when not having a crisis.
People with this condition should take folic acid supplements. Folic acid helps make new red blood cells.
Treatment for a sickle cell crisis includes:
Blood transfusions (may also be given regularly to prevent stroke)
Pain medicines
Plenty of fluids
Other treatments for sickle cell anemia may include:
Hydroxyurea (Hydrea), which helps reduce the number of pain episodes (including chest pain and breathing problems) in some people
Antibiotics, which help prevent bacterial infections that are common in children with sickle cell disease
Medicines that reduce the amount of iron in the body.
Antibiotics, which help prevent bacterial infections that are common in children with sickle cell disease
Medicines that reduce the amount of iron in the body.
Treatments that may be needed to manage complications of sickle cell anemia include:
Dialysis or kidney transplant for kidney disease
Counseling for psychological complications
Gallbladder removal in people with gallstone disease
Hip replacement for avascular necrosis of the hip
Surgery for eye problems
Treatment for overuse or abuse of narcotic pain medicines
Wound care for leg ulcers
Bone marrow or stem cell transplants can cure sickle cell anemia, but this treatment is not an option for most people. Sickle cell anemia patients often cannot find well-matched stem cell donors.
People with sickle cell disease should have the following vaccinations to lower the risk of infection:
Haemophilus influenzae vaccine (Hib)
Pneumococcal conjugate vaccine (PCV)
Pneumococcal polysaccharide vaccine (PPV)
Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or sometimes drepanocytosis, is a hereditary blood disorder, characterized by an abnormality in the oxygen-carrying haemoglobin molecule in red blood cells that leads to a propensity for the cells to assume an abnormal, rigid, sickle-like shape under certain circumstances. Sickle-cell disease is associated with a number of acute and chronic health problems, such as severe infections and attacks of severe pain ("sickle-cell crisis"), and an increased risk of death.
Sickle-cell disease occurs when a person inherits two abnormal copies of the haemoglobin gene, one from each parent. Several subtypes exist, depending on the exact mutation in each haemoglobin gene. A person with a single abnormal copy does not experience symptoms and is said to have sickle-cell trait.
The complications of sickle-cell disease can be prevented to a large extent with vaccination, preventative antibiotics, blood transfusion, and the drug hydroxyurea/hydroxycarbamide. A small proportion requires a transplant of bone marrow cells.
Almost 300,000 children are born with a form of sickle-cell disease every year, mostly in sub-Sarahan Africa, but also in other countries such as the West Indies and South Asia, and in people of African origin elsewhere in the world. The condition was first described in the medical literature by the American physician James B. Herrick in 1910, and in the 1940s and 1950s contributions by Nobel prize-winner Linus Pauling made it the first disease where the exact genetic and molecular defect was elucidated.
