Diseases & Conditions

 

Sickle Cell Disease

Diseases & Conditions

What is sickle cell disease?

Sickle cell disease is a genetic disorder that affects the red blood cells. In the body, red blood cells use a protein called hemoglobin to carry oxygen from the lungs to all organs. Patients with sickle cell disease inherit a mutated gene that gives defected hemoglobin. Normally, healthy red blood cells are round and flexible moving easily through the blood vessels. In sickle cell disease, the red blood cells become distorted and take the shape of a crescent or a farm tool called the “sickle”. These defected cells can adhere to the blood vessels walls and block the flow of blood and oxygen to the organs.

Sickle cell disease affects millions throughout the world. It is estimated that 250,000 children are born annually with sickle cell disease worldwide and thus it is among the most important epidemiological genetic diseases in the world.1

Studies have shown an inconsistency about the prevalence of sickle cell disease in Saudi Arabia, but they have reported that this disease is a relatively common genetic disorder in the kingdom.2

 

What causes sickle cell disease?

Sickle cell disease is a genetic disorder passed from parents to their children. A child must receive two defected hemoglobin genes, one from each parent to be affected by sickle cell disease. If a person inherits only one abnormal hemoglobin gene, his blood will contain some sickle cells but he will not experience symptoms. This person will be carrier of the disease and he will pass it on to his children.3

 

What are the symptoms of sickle cell disease?

Sickle cell disease can cause a large number of symptoms, although not every patient will experience all of the symptoms:4

  • Anemia: A person with sickle cell disease will develop anemia because the amount of hemoglobin in the blood is lower than normal,. The body will not have enough oxygen and this will cause fatigue, shortness of breath and irregular heartbeat.

 

  • Episodes of pain: Sickle cell crisis is one of the major symptoms of sickle cell disease. It is triggered when the abnormal sickle cells flow through the small blood vessels.
  • Hand-foot syndrome: This syndrome usually affects babies causing swelling in the hands, the feet, or both.

 

  • Frequent infections: Patients with sickle cell disease are more prone to infections because the defected blood cells can disturb the normal function of the spleen. The spleen is an organ that fights infections by filtering bacteria and viruses from the blood.

 

  • Delayed growth: Red blood cells provide the oxygen and nutrients required for physical development. Children with sickle cell disease will experience delayed growth.

 

  • Vision problems: Sickle cells can get stuck in the blood vessels of the eyes causing vision problems.

 

How is sickle cell disease diagnosed?

It is possible for doctors to diagnose sickle cells before or after birth:5

  • Before birth: Prenatal testing is possible by examining the DNA of fetal cells obtained by amniocentesis.

 

  • After birth: Postnatal testing of sickle cell disease is possible with a simple blood test. The disease is found mostly at birth during routine newborn screening tests at the hospital. The blood test is known as hemoglobin electrophoresis, which measures the amount of defected sickle hemoglobin in the blood.

 

How is sickle cell disease treated?

The aim of sickle cell disease treatment is to relieve pain and to prevent infections, eye damage, and strokes.6

  • Managing pain:
    • Drinking lots of fluids
    • Taking non-steroidal anti-inflammatory
    • Taking pain medication (ibuprofen)
    • Visiting the hospital: If the pain cannot be managed at home, the patient must go to the hospital to receive appropriate treatment such as stronger medicines and intravenous fluids

 

 

 

  • Preventing infections:
    • Penicillin: Taking penicillin will lower the risk of infections caused by pneumococcus bacteria
    • Vaccinations: Sickle cell patients and especially children should receive all vaccinations against pneumococcus, influenza and meningococcus

 

  • Preventing eye damage:
    • Eye examination: A patient with sickle cell disease should have vision screening every year. Regular exams can help treat vision problems early and prevent sight loss

 

  • Preventing strokes:
    • Transcranial Doppler (TCD) Ultrasound Screening: This technique will show if a patient is at high risk for stroke.
    • Blood transfusions: Patients who show symptoms of stroke or are at a high risk should get blood transfusions monthly

 

  • Other tests:
    • Height and weight must be monitored to make sure that a child is growing properly
    • Blood pressure should also be monitored because hypertension could increase the risk of stroke
    • Urine testing can help detect early kidney damage and infections.


Reference:

  1. Lervolino, Luciana Garcia, et al. "Prevalence of sickle cell disease and sickle cell trait in national neonatal screening studies." Revista brasileira de hematologia e hemoterapia 33.1 (2011): 49-54.
  2. Jastaniah, Wasil. "Epidemiology of sickle cell disease in Saudi Arabia." Annals of Saudi medicine 31.3 (2011): 289.
  3. Sickle Cell Disease (Sickle Cell Disease) http://learn.genetics.utah.edu/content/disorders/singlegene/sicklecell/ (Accessed December 8, 2015)
  4. Sickle cell anemia (Symptoms). http://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/basics/symptoms/con-20019348 (Accessed December 8, 2015)
  5. Sickle Cell Disease Symptoms, Causes, Treatments (WebMD). http://www.webmd.com/pain-management/pain-management-sickle-cell-disease?page=2#2 (Accessed December 8, 2015)
  6. How Is Sickle Cell Disease Treated? (- NHLBI, NIH). http://www.nhlbi.nih.gov/health/health-topics/topics/sca/treatment# (Accessed December 8, 2015)