Sickle Cell Disease

June 19th - World Sickle Cell Awareness Day

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According to sicklecelldisease.org, sickle cell disease is a group of disorders affecting a person’s red blood cells, which carry oxygen throughout the body. In sickle cell disease, a person’s red blood cells are deformed, taking on a sickle-like C-shape, which has a variety of adverse health consequences throughout that person’s lifetime. The disease is genetically inherited, so people are born with the disease and cannot catch it.

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 Source: National Heart, Lung, and Blood Institute 

Sickle cell disease is caused by inheriting two abnormal hemoglobin genes. This causes a person to produce abnormal hemoglobin (the oxygen carrying protein in red blood cells), which in turn causes red blood cells to become abnormal. These abnormal cells carry less oxygen and are more prone to clotting blood vessels—meaning that people with the disease are at greater risk for many other health conditions.

Information from the Centers for Disease Control and Prevention (CDC) shows that sickle cell disease can occur in anyone, though the risk is higher in some subpopulations. Specifically, people with ancestry from regions with malaria are more likely to have at least one sickle cell gene (there is strong evidence suggesting that having one sickle cell gene provides some protection from malaria). The disease is most common in people of African descent, affecting 1 out of every 375 African American infants. It is also common in people whose families originated from South or Central American countries, Mediterranean countries (Greece, Italy, and Turkey), the Caribbean islands, India, and Saudi Arabia.

 

 

Testing for Sickle Cell Disease

As part of newborn screening programs, all children born within the U.S. hospital system are tested for sickle cell disease within a few days of birth. Early testing allows clinicians and other health personnel to initiate long-term care, which can drastically improve the child’s health outcomes. Additionally, genetic testing and counseling before and during pregnancy can help expecting parents or those planning families manage their risk of having a child with sickle cell disease.

Complications

Sickle cell disease is a disease that worsens over time with a number of complications in patients including hand-foot syndrome, a pain “episode” or “crisis,” infection, anemia, acute chest syndrome, splenic sequestration, and stroke. Many other complications can also occur.

Treatment/Management

Some treatments are available for sickle cell disease. CDC describes some treatments as:

Surgery (bone marrow transplant)—Diseased bone marrow cells can be replaced with healthy ones. Bone marrow transplants have increasingly been used to successfully cure the disease in recent years. Surgery is usually recommended for those have significant symptoms that interfere with their quality of life, and not everyone may be an ideal candidate. Finding a donor or suitable match can also be very difficult. Treatment is usually aimed at preventing complications, avoiding crises, and relieving symptoms.

Medication/Supplementation—

  • Hydroxyurea, which stimulates the production of hemoglobin to prevent sickle cell formation
  • Pain relievers to provide some comfort during crises
  • Antibiotics, particularly from infancy through school age, to prevent infections since children are more susceptible
  • Supplementation through the use of certain compounds to ensure the body has optimum levels of nutrients

Elimination of iron overload—Sickle cell patients usually receive a number of blood transfusions in their lifetime, which increases their risk of accumulated iron. This accumulation could lead to functional impairment of organs. Therefore, the excess iron needs to be eliminated.

Vaccinations—Several infections, such as pneumonia, that could easily befall sickle cell patients can be avoided by getting vaccinated.

Blood transfusions—Increasing the number of red blood cells in circulation can relieve anemia.

Conclusion

Getting informed about this disease is very important in preventing it and reducing morbidity and mortality. Since the possibility of inheriting it increases significantly when both parents have the trait or disease, knowing your own and your partner’s genotype early is very important when planning to have kids. Knowing the risks, preventive measures, management of the disease, and your reproductive options can help you make the best decision for yourself. Genetic counselors can provide education on these topics as well as linkage to available services. 

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Screening in newborns helps to detect this condition, and care from infancy results in the best health outcomes. The National Heart, Lung, and Blood Institute states that even though living with sickle cell disease can be difficult, quality of life can be enhanced by the following:

  • Pursue a healthy lifestyle through a nourishing diet, regular exercise, lots of water, getting enough sleep, and avoiding the use of drugs and alcohol.
  • Prevent and control complications.
  • Get continuous and complete care: physically and mentally.
  • Fly on airplanes with pressurized cabins to prevent low oxygen levels, which could trigger a crisis. 

For More Information

World Sickle Cell Day has been celebrated annually since 2008, and it happens on June 19 of each year. It is recognized globally and was created by the United Nations.

Sickle Cell Disease Association of America: http://www.sicklecelldisease.org/

A personal account: https://www.nlm.nih.gov/medlineplus/magazine/issues/winter11/articles/winter11pg19.html

World Sickle Cell Day: http://worldsicklecellday.webs.com/

Mayo Clinic: http://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/basics/definition/con-20019348

CDC: http://www.cdc.gov/ncbddd/sicklecell/facts.html

NIH: http://www.nhlbi.nih.gov/health/health-topics/topics/sca

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