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Sickle Cell Disease

Understanding Sickle Cell Disease

Sickle cell disease is a term used to describe a group of disorders called hemoglobinopathies. These disorders involve a defect in a substance in the blood.

Red blood cells contain a substance called hemoglobin (Hb), which carries oxygen from the lungs to the tissues of the body, and returns carbon dioxide from the tissues to the lungs.   In some people, hemoglobin is abnormal and this causes the red blood cells—which are normally round—to change shape.  The resulting sickle (or crescent) shaped red blood cell is where the disease gets its name. 

The problem with abnormal hemoglobin (called sickle hemoglobin, or Hb type S) and sickle cells is that these deformed cells—because of their shape—can become trapped in small blood vessels and block blood flow to the tissues, causing pain and organ damage.  Sickle cells also do not last as long as normal blood cells.  As a result of this constant shortage of red blood cells, the blood is unable to carry enough oxygen to the rest of the body and patients develop anemia.

Quick Facts

  • Persons of African, Mediterranean, East Indian or Latin American descent are most commonly affected by sickle cell disease.
  • In the United States, more than 70,000 people have sickle cell disease.
  • More than 1,000 babies are born with sickle cell disease each year in the U.S.
  • All states in the U.S. have newborn screening programs for sickle cell disease.

Classification
Sickle cell anemia (called HbSS) is one type of sickle cell disease.  Other common types, which are named for the abnormal kind of hemoglobin found in the blood, include hemoglobin SC disease (HbSC) and hemoglobin beta thalassemia.  There are also a few rare types of sickle cell disease:  hemoglobin SD disease (HbSD), hemoglobin SE disease (HbSE), and hemoglobin SO Arab disease.  All of these disorders have defects in hemoglobin causing red blood cells to distort into a sickle shape. 

Risk Factors & Causes
Sickle cell disease is a genetic disorder, one that is passed from parent to child and is present at birth.  People with normal hemoglobin receive two normal genes (one from each parent).  However, sickle cell disease is inherited when a child receives two sickle cell genes.  People who inherit one sickle cell gene and one normal gene are carriers and are said to have sickle cell trait (or HbAS).

Although people with sickle cell trait do not usually have any symptoms and do not have the disease themselves, they can pass the gene for abnormal hemoglobin on to their children.  Since sickle cell disease is “recessive”, it is possible for these children to be born with the disease if both parents pass on the sickle cell gene.

Sickle cell disease is usually detected within the first year of life, around 5 months of age.  People at greatest risk for sickle cell disease have ancestors from Africa, South or Central America, Caribbean, Mediterranean countries, India, or Saudi Arabia.  Both genders are affected equally.

Symptoms & Complications

Sickle cell disease commonly causes chronic anemia (on-going, low red blood cell counts), a reduced ability to fight off infections, and damage to the organs (particularly the lungs and kidneys), in addition to acute and chronic pain.  Yet, symptoms and complications of the disease differ from person to person and may be mild, moderate, or severe.  Sometimes complications occur as a result of extreme conditions, such as being at high altitude, being dehydrated (having too little water in the body), or having too little oxygen in the body after intense exercise.

Complication Description Cause
Pain Crisis Sudden pain (mild or severe) lasting any amount of time Sickle cells clog small blood vessels, restricting blood flow
Hand-foot Syndrome Swelling in hands & feet, often with fever Sickle cells clog small blood vessels, restricting blood flow to hands & feet
Anemia Tiredness, irritability, dizziness & lightheadedness, fast heart rate, difficulty breathing, pale skin color, jaundice, slow growth, delayed puberty Sickle cells die early, so there are not enough healthy red blood cells to take oxygen to the tissues
Infections Any harmful infection; pneumonia is particularly dangerous for infants & children with sickle cell disease Reduced ability to fight infections
Acute Chest Syndrome Symptoms similar to pneumonia (chest pain, coughing, difficulty breathing, & fever) Unclear (possibly fat embolism—blockage of blood vessels—or infection)
Splenic Sequestration Sudden weakness, pale lips, fast breathing, extreme thirst, abdominal (belly) pain on the left side of body, & fast heart beat Many sickle cells become trapped in the spleen, which enlarges suddenly
Vision Loss Retina damage; possible blindness Sickle cells clog small blood vessels, restricting blood flow to the eye(s)
Leg Ulcers Ulcers on lower part of leg Unclear
Stroke Paralysis/numbness on one side of body, difficulty with speech/vision,
sudden severe headache with possible loss of consciousness, (partial) seizures
Sickle cells clog small blood vessels, restricting blood flow to the brain

 

Cost
According to the Centers for Disease Control and Prevention†: “Sickle cell disease is a major public health concern.  From 1989 through 1993, there were an average of 75,000 hospitalizations due to sickle cell disease in the United States, costing approximately $475 million.”

Living with Sickle Cell Disease
Sickle cell disease is a lifelong disorder; yet, those affected can still lead productive lives.  Comprehensive treatment centers—in providing specialized patient care, genetic testing, family planning counseling, and other services—help patients with sickle cell disease experience a high quality of life.  While future therapies hold the promise of improved outcomes, early diagnosis and comprehensive care are still the most important factors in living well with sickle cell.

Currently, the only true cure for sickle cell disease is a bone marrow/stem cell transplant.  This procedure requires a matching donor, and is only performed in children with severe disease who have minimal organ damage. 

With proper care, this condition can be successfully managed.  A hematologist (a physician with special training in blood disorders) handles a sickle cell patient’s care and identifies the best treatment options.  These typically include pain medication, antibiotics (for infections), folic acid (for red blood cell production), and a medication called hydroxyurea, which can help reduce the number of pain crises for adults with severe disease.

The good news is that many complications can be prevented.  People with sickle cell disease should be sure to:

  • Stay up-to-date on vaccinations
  • Drink plenty of water (8 to 10 glasses per day) to stay hydrated
  • Have regular check-ups with their hematologist (at least twice a year)
  • See their primary care doctor regularly
  • See an eye doctor once a year
  • Avoid getting too hot or too cold
  • Avoid places with high altitudes (flying, mountain climbing, or cities with a high altitude)
  • Avoid places or situations with low oxygen (mountain climbing or exercising extremely hard, such as in military boot camp or when training for an athletic competition)
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