September represents Sickle Cell Anemia (SCA) Awareness Month. In the context of discussing diseases that present to the emergency department with pain, the Pain (Vasoocclusive) Crises of SCA stand out. In my experience, I can’t identify another physiologically understood disease in which patients are as commonly treated as if they are less than deserving of treatment. That certainly isn’t the case with patients needing pain control from diseases such as cancer and lupus. This is a quite good (and unfortunate) example of biases creeping into medical practice. Can you imagine an existence in which your blood cells are deformed to the extent to which they resemble pointy knives poking at you? That’s a grotesque oversimplification, but it does capture the essence of those suffering from a Pain Crisis.
- What Is Sickle Cell Disease (SCD)?
Sickle cell disease is a group of disorders of the red blood cells (RBCs). The RBCs have abnormal hemoglobin (the protein responsible for carrying oxygen throughout your bodies to nourish various tissues).
- How do I get Sickle Cell Disease?
The conditions defining SCD are inherited. It is not a disorder you can individually obtain from interacting with someone affected (i.e. it is not contagious). In order to inherit SCD, you must receive abnormal genes from both parents. Sickle cell anemia is more common in certain ethnic groups, including those of African descent, Hispanic Americans from Central and South America, and those of Middle Eastern, Asian, Indian, and Mediterranean descent. One in twelve African-Americans carries a sickle cell gene.
- Is this the same as Sickle Cell Anemia?
In sickle cell disease, a form of hemoglobin known as hemoglobin S is formed through inheritance from one parent. If the genes passed down from both parents create hemoglobin S (a designated known as hemoglobin SS), the resulting condition is known as sickle cell anemia (SCA). SCA is the most common and severe form of SCD. It should be noted that other forms of sickle cell disease exist, representing other combinations of hemoglobin and relatively different amounts of hemoglobin S. These include the following:
- Hemoglobin SS
- Hemoglobin SC
- Hemoglobin Sβ0 thalassemia
- Hemoglobin Sβ+ thalassemia
- Hemoglobin SD
- Hemoglobin SE
- What does it mean if I have Sickle Cell Disease?
The problem is simple and relatively easily understood. Red blood cells (RBCs) carry oxygen from your lungs to tissues around the body. Normally hemoglobin is disc-shaped and quite able to deform in ways allowing it to maneuver throughout the body in its quest to deliver oxygen. If the hemoglobin is deformed, it is less able or unable to carry oxygen. If you can’t carry oxygen, it’s not getting delivered to your organs and tissues. If it’s not getting delivered, there are consequences.
- Why do I get symptoms? What symptoms would I get if I had SCD?
It’s all about the lack of oxygen. The pain results from the equivalent of your body screaming from its absence. These pain crises are sudden, severe and often unrelenting, requiring ER visits and dramatic doses of medicine to reverse symptoms. These crises can occur anywhere such as the brain or lungs, but are typically seen in joints.
Symptoms may result from the rupture of these deformed cells (hemolysis). Sickle cells only last 10-20 days, compared to a normal lifespan of 90-120 days for normal cells. The lack of effective RBCs in your body is what’s known as anemia. Those of you who bleed monthly or otherwise have conditions affecting red blood cells recognize all too well the fatigue and energy loss associated with low RBC levels. Furthermore, the abnormally shaped cells themselves (in combination with the relative lack of oxygen delivery) can damage organs, most notably including the spleen but also including the brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin.
- How is SCD treated?
On a relative scale, there’s much better news than existed a generation or two ago. In the US, back in 1973 the average lifespan of a patient with SCD was only 14 years old; today it is approximately 40-60 years. SCD produces a life-long illness. Today, stem cell transplantation of those cells producing normal red blood cells (called hematopoietic stem cell transplantation or HSCT) represents a cure for those that can obtain it. The rate limiting consideration for many is most sicklers are either too old or don’t have an appropriate healthy genetic match to receive a successful transplant.
In the absence of a cure, for most patients, management involves regular healthy measures and regular medical care to prevent complications Special attention is given to maintaining hydration, appropriate blood cell counts and pain management when needed.
A truly unfortunate part of the disease is the relative lack of compassion offered to sufferers. As previously mentioned, these patients live a life of pain and go through life treated as drug-seekers in a way we rarely, if ever, see others treated. Most have had surgery before they reached age 10. Patients with sickle cell anemia suffer from a decreased life expectancy. If you’ve made it to this point in the post, consider yourself aware. I hope you care enough to lend a hand when needed.
There are good and important organizations that are dedicated to the study and treatment of SCA, including the Sickle Cell Disease Association www.sicklecelldisease.org and the Foundation for Sickle Cell Research www.fscdr.org.
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