||Anemia, Sickle Cell
Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape.
Symptoms usually don't occur until after age 4 months.
Common symptoms include:
- Attacks of abdominal pain
- Bone pain
- Delayed growth and puberty
- Rapid heart rate
- Ulcers on the lower legs (in adolescents and adults)
Other symptoms include:
- Chest pain
- Excessive thirst
- Frequent urination
- Painful and prolonged erection (priapism - occurs in 10 - 40% of men with the disease)
- Poor eyesight/blindness
- Skin ulcers
Patients with sickle cell disease need ongoing treatment, even when they are not having a painful crisis. They should take supplements of folic acid (essential for producing red blood cells) because red blood cells are turned over so quickly.
The purpose of treatment is to manage and control symptoms, and to limit the frequency of crises.
During a sickle crisis, you may need certain treatments. Painful episodes are treated with pain medicines and by drinking plenty of fluids. It is important to treat the pain. Non-narcotic medications may be effective, but some patients will need narcotics.
Hydroxyurea (Hydrea) is a drug some patients use to reduce the number of pain episodes (including chest pain and difficulty breathing). It does not work for everyone.
Antibiotics and vaccines are given to prevent bacterial infections, which are common in children with sickle cell disease.
Blood transfusions are used to treat a sickle cell crisis. They may also be used on a regular basis to help prevent strokes.
Other treatments for complications may include:
- Dialysis or kidney transplant for kidney disease
- Drug rehabilitation and counseling for psychological complications
- Gallbladder removal (if you have gallstone disease)
- Hip replacement for avascular necrosis of the hip
- Irrigation or surgery for persistent, painful erections (priapism)
- Surgery for eye problems
- Wound care, zinc oxide, or surgery for leg ulcers
Bone marrow transplants can cure sickle cell anemia. However, transplants have many risks, including infection, rejection, and graft-vs-host disease. They are not an option for most patients. Also, sickle cell anemia patients are often unable to find suitable donors.
Hemoglobin is a protein inside red blood cells that carries oxygen. Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin S distorts the shape of red blood cells, especially when there is low oxygen.
The distorted red blood cells are shaped like crescents or sickles. These fragile, sickle-shaped cells deliver less oxygen to the body's tissues. They also can clog more easily in small blood vessels, and break into pieces that disrupt blood flow.
Sickle cell anemia is inherited from both parents. Sickle cell disease is much more common in people of African and Mediterranean descent. It is also seen in people from South and Central America, the Caribbean, and the Middle East.
Someone who inherits the hemoglobin S gene from one parent and normal hemoglobin (A) from the other parent will have sickle cell trait. People with sickle cell trait do not have the symptoms of true sickle cell anemia.
|Tests & diagnosis
Tests commonly performed to diagnose and monitor patients with sickle cell anemia include:
- Complete blood count (CBC)
- Hemoglobin electrophoresis
- Sickle cell test
Other tests may include:
- Blood oxygen
- CT scan or MRI
- Peripheral smear
- Serum creatinine
- Serum hemoglobin
- Serum potassium
- Urinary casts or blood in the urine
- White blood cell count
In the past, sickle-cell patients often died from organ failure between ages 20 and 40. Thanks to a better understanding and management of the disease, today patients can live into their 50s or beyond.
Causes of death include organ failure and infection. Some people with the disease experience minor, brief, infrequent episodes. Others experience severe, long-term, frequent episodes with many complications.
Sickle cell anemia can only occur when two people who carry sickle cell trait have a child together. Genetic counseling is recommended for all carriers of sickle cell trait. About 1 in 12 African Americans has sickle cell trait. It is possible to diagnose sickle cell anemia during pregnancy.
You can prevent sickling of red blood cells by:
- Getting enough fluids
- Getting enough oxygen
- Quickly treating infections
Have physical exams every 3 - 6 months to ensure that you are getting enough nutrition and activity, and that you are receiving the proper vaccinations. Regular eye exams are also recommended.
People with sickle cell anemia need to keep their immunizations up to date, including Haemophilus influenza, pneumococcal, meningococcal, hepatitis B, and influenza.
Some patients may receive antibiotics to prevent infections.
Parents should encourage children with sickle cell anemia to lead normal lives.
To reduce sickle cell crises, take the following precautions:
To prevent oxygen loss, avoid:
- Demanding physical activity (especially if the spleen is enlarged)
- Emotional stress
- Environments with low oxygen (high altitudes, non-pressurized airplane flights)
- Known sources of infection.
- To make sure you're getting enough fluids:
- Avoid too much exposure to the sun
- Have fluids on hand, both at home and away
- Recognize signs of dehydration
- To avoid infection:
- Consider having the child wear a Medic Alert bracelet
- Have the child vaccinated as recommended by the health care provider
- Share the above information with teachers and other caretakers, when necessary
Be aware of the effects that chronic, life-threatening illnesses can have on siblings, marriages, parents, and the child.
- Acute chest syndrome
- Blindness/vision impairment
- Brain and nervous system (neurologic) symptoms and stroke
- Disease of many body systems (kidney, liver, lung)
- Drug (narcotic) abuse
- Erectile dysfunction (as a result of priapism)
- Hemolytic crisis
- Infection, including pneumonia, gallbladder inflammation (cholecystitis), bone infection (osteomyelitis), and urinary tract infection
- Joint destruction
- Leg sores (ulcers)
- Loss of function in the spleen
- Parvovirus B19 infection, leading to low red blood cell production (aplastic crisis)
- Splenic sequestration syndrome
- Tissue death in the kidney
|When to contact a doctor
Contact doctor if you have:
- Painful crises
- Any symptoms of infection (fever, body aches, headache, fatigue)