Sickle-cell disease (patient information)

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Sickle cells
ICD-10	D57
ICD-9	282.6
OMIM	603903
DiseasesDB	1206
MedlinePlus	000527
MeSH	C15.378.071.141.150.150

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Lakshmi Gopalakrishnan, M.B.B.S.

Overview

Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape. (Red blood cells are normally shaped like a disc.)

What are the symptoms of Sickle-cell disease?

• Symptoms usually don't occur until after age 4 months.

• Almost all patients with sickle cell anemia have painful episodes (called crises), which can last from hours to days. These crises can affect the bones of the back, the long bones, the chest, and various other organs.

• Some patients have one episode every few years. Others have many episodes per year. The crises can be severe enough to require a hospital stay.

• Common symptoms include:

• Attacks of abdominal pain
• Bone pain
• Breathlessness
• Delayed growth and puberty
• Fatigue
• [Fever]]
• Paleness
• Rapid heart rate
• Ulcers on the lower legs (in adolescents and adults)
• Yellowing of the eyes and skin (jaundice)

• 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
• Strokes
• Skin ulcers

What causes Sickle-cell disease?

• 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.
• Hemoglobin S changes 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. They can also get stuck more easily in small blood vessels, and break into pieces that interupt healthy blood flow.

• Sickle cell anemia 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 have the symptoms of sickle cell anemia. In order to get sickle cell disease, both of your parents must have at least 1 defective gene. If both of your parents have sickle cell trait, then there is a 25% chance that you will get sickle cell disease.

Who is at highest risk?

• 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.

When to seek urgent medical care?

Call your health care provider if you have:

• Painful crises
• Any symptoms of infection (fever, body aches, headache, fatigue)
• Breathlessless

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:

• Serum hemoglobin
• Peripheral smear (looking at the blood cells on a microscope slide)
• Serum potassium (an electrolyte that can be released by red blood cells)
• Serum creatinine
• White blood cell count (to assess for infection)
• Bilirubin )a breakdown product of hemoglobin)
• Blood oxygen
• CT scan or MRI (imaging of specific organs that may be affected)
• Urinary casts or blood in the urine

Treatment options

• The goal of treatment is to manage and control symptoms, and to limit the number of crises.

• Patients with sickle cell disease need ongoing treatment, even when they are not having a painful crisis.

• Folic acid supplements should be taken. Folic acid is needed to make 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): a medicine that may help reduce the number of pain episodes (including chest pain and difficulty breathing) in some people. It works by making your body produce fetal hemoglobin. Fetal hemoglobin is able to carry oxygen better than adult hemoglobin.
• Antibiotics to prevent bacterial infections, which are common in children with sickle cell disease

• Treatments for complications of sickle cell anemia may include:

• Kidney dialysis or kidney transplant for kidney disease
• Drug rehabilitation and counseling for psychological complications (such as chronic opiate use)
• Gallbladder removal in those with gallstone disease (because hemoglobin breaks down to bilirubin, which causes gallstones)
• Hip replacement for avascular necrosis of the hip
• Treatments, including surgery, for persistent, painful erections (priapism), since sickled cells can lodge in the penile blood vessels
• Surgery for eye problems, since sickled cells can lodge in the vessels of the eye
• Wound care, zinc oxide, or surgery for leg ulcers, because a person with sickle cell disease has poor spleen function, and the spleen is needed to protect against infection

• 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.

Where to find medical care for Sickle-cell disease?

Directions to Hospitals Treating Sickle-cell disease

Prevention

• 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.

• If you have sickle cell anermia, you can prevent the change in red blood cell shape by:

• Getting enough fluids
• Getting enough oxygen
• Quickly treating infections
• Have a physical exam every 3 - 6 months to make sure that you are getting enough nutrition and activity, and that you are receiving the proper vaccinations. Regular eye exams are recommended.

• PREVENTING CRISES: It is important to maintain good oxygen levels and to prevent dehydration. The following steps can help prevent a sickle cell crisis:

• Avoid strenous activities, stress, smoking, high-altitudes, nonpressurized flights, and other events that reduce your oxygen level
• Always have plenty of fluids with you
• Avoid too much sun exposure

• Consider having the child with sickle cell anemia wear a Medic Alert bracelet. Share the above information with teachers and other caretakers, when necessary.

• PREVENTING INFECTIONS:

• People with sickle cell anemia need to keep their immunizations up to date to prevent illness.
• Some patients may receive antibiotics to prevent infections.

What to expect (Outlook/Prognosis)?

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.

Possible complications

• Acute chest syndrome
• Anemia
• Blindness/vision impairment
• Brain and nervous system (neurologic) symptoms and stroke
• Death
• Disease of many body systems (kidney, liver, lung)
• Drug (narcotic) abuse
• Erectile dysfunction (as a result of priapism)
• Gallstones
• 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

Source

http://www.nlm.nih.gov/medlineplus/ency/article/000527.htm

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