You have most likely heard of sickle cell disease — also called sickle cell anemia — before, but if you don't know how this group of heritable red blood cell disorders affects people who live with it, now's a good time to learn more. It's World Sickle Cell Awareness Day, and its goal is to spread awareness. The theme? "Shine the light". We'll try to do that by shedding some light on the condition.
What are the symptoms of sickle cell disease?
Sickle cell disease is a genetic condition caused by a certain mutation on a gene on the 11th chromosome. For sickle cell disease to occur, both parents must carry the mutated gene, and the offspring must inherit the mutated gene from both parents — one from each.
This gene is responsible for coding the protein that makes hemoglobin, the iron-rich protein responsible for allowing red blood cells to carry oxygen throughout the body.
The mutated gene seen in people with sickle cell disease changes the shape of hemoglobin, which, consequentially makes red blood cells rigid and sickle-shaped. Affected patients start experiencing symptoms when they are only a few months old. They can range from mild to serious, and sometimes even life-threatening. People who inherit only one mutated gene experience similar symptoms as those with two mutated genes, but are less seriously impacted by the condition.
The three most common symptoms of sickle cell disease are:
- Anemia
- Painful episodes
- Increased susceptibility to infections
Other symptoms include:
- Fatigue
- Joint swelling
- Delayed growth in children and adolescents
- Bone and joint pain
- Long and painful erections
- Open sores on lower parts of legs
- Vision problems
- Gallstones
- Stroke
- Heart problems
- Lung damage
Anemia is the most common complication of this condition, and it occurs due to the incorrect shape of hemoglobin, as well as because the red blood cells are rigid. The painful episodes occur when the sticky and rigid erythrocytes block a small blood vessel. The frequency and duration of these episodes vary from patient to patient. Sickle cell disease patients are more prone to infection than the healthy population, especially early in life. While this condition can be managed, patients with sickle cell disease usually have a shorter life expectancy than the healthy population.
How is sickle cell disease diagnosed?
Sickle cell disease is diagnosed using genetic tests. The tests determine if you carry the mutated gene, and if there are one or two copies of that gene. Prenatal tests, which are done during pregnancy, can be performed, and they can help determine if the baby will be affected by this condition, and to which extent.
In some regions, where sickle cell disease is more common, these tests are performed routinely, while in others, you can be given a questionnaire about your heritage to determine if you are at risk of being a carrier for this disease.
Some regions are disproportionately affected by sickle cell disease. The percentage of people affected is directly related to occurrence of malaria in those regions (since people with sickle-shaped erythrocytes are less likely to be infected by malaria). The regions where sickle cell disease is most common are Africa, the Mediterranean, the Middle East, India, and Southern Europe.
While, in terms of evolution, this makes sense, historical events (i.e. the slave trade) influenced the epidemiological map of this disease. The disease is common in people of African heritage in the Americas. Aside from the US, the disease is common in Jamaica as well, where about 10 percent of the population carries the gene that causes sickle cell disease. As for Europe, France and the UK are most affected. Almost 4.5 million people across the globe lived with sickle cell disease in 2015, and tragically, more than 100,000 people died of complications caused by this condition.
How is sickle cell disease treated?
Unfortunately, sickle cell disease cannot be cured routinely. But it can be treated. People living with sickle cell disease will become very familiar with the inside of doctor's offices, since their health needs to be closely monitored with blood tests, vision tests, oxygen saturation tests, and other exams.
A diet rich in calcium is recommended, and high intake of liquids can benefit people living with the condition. Penicilin is given daily to children up until the age of five, since their immune system is incapable of dealing with potential infections. Painful episodes are treated with pain relievers. Blood transfusions can help, if anemia is present.
The only known cure for sickle cell disease is a blood and bone marrow transplant. But, this is easier said than done, since a number of criteria must be met for this method to be successful. Ideally, a close, healthy, relative could donate their bone marrow to the affected individual.
Psychological help is also encouraged, to help people deal with their condition, as well as the pain that the patients encounter on a regular basis.
How can you help people with sickle cell disease?
At their best, awareness events do more than merely teach you something — they also encourage you to take action.
If someone you care about lives with sickle cell disease, you can help by asking them about the best way to help them through a pain crisis, and learning about the warning signs that they need immediate medical help (like slurred speech, headaches, shortness of breath, and a weakness that comes on without warning). You can ask your loved one if they'd like you to exercise with them or otherwise motivate them to stay healthy. Most of all, be there for your friend or relative, so they have a reliable listening ear and a hug.
Whether or not you personally know someone with sickle cell disease, you may be able to help in a big way — by donating blood or even bone marrow. There's always a shortage of blood donors, especially since the COVID-19 pandemic, and donating could save someone's life.
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