West: Sickle cell disease, trait differences, treatment options

September was the month designated to heighten awareness of Sickle Cell Disease (SCD) and Sickle Cell Trait (SCT). Actually, we should be aware every month that many children, adults and families are affected by this genetic disease.

Questions:

So, Sharon I have heard of Sickle Cell Disease but what is it? Also, can I “catch it” from someone who has it?

Great questions. First of all, both are genetic - it is inherited. It is not contagious- meaning nope you cannot “catch it” from anyone by a mere touch or living in the same household etc.

• If one parent has SCD and other parent does not (has normal RBCs), each child will have SCT.

• If one parent has SCD and the other has SCT, there is 50% chance of having a baby with either SCD or SCT with each pregnancy

• When both parents have SCT, there is a 25% chance (1 out of 4) of having a baby with SCD with each pregnancy.

What population does SCD/SCT mostly affect?

• One of the latest statistics I have seen is that SCD affects approximately 100,000 Americans. Most are African American with a smaller percentage of Hispanics; Middle Eastern or Asian Indian populations being affected.

At birth, the blood test will alert the medical team if this infant has SCD or SCT. SCD nor SCT occur later in life, one is born with this! It is possible that before there was mandatory testing for SCD at birth in the United States (2006), a person may not have been tested therefore may not know if they have it or not. Folks with SCT generally have no symptoms. Folks with SCD, usually do exhibit signs and symptoms which can be quite painful - mostly referred to as a sickle cell crisis.

Based on my experience in working with patients with sickle cell disease, the pain is so intense, hospitalization with analgesics such as opioids over a significant period is basically the only way to address this extreme level of pain. There are several other approaches available that can ward off pain crisis that I am pleased to have read about. I recall the stories from African American males living with Sickle Cell disease stating that they always knew when a crisis was starting because of the discomfort. They would drive directly to the hospital so that the medical intervention could delay or prevent the process from going into a full pain crisis. By the time the medical team in emergency departments would do their assessment to rule out “drug seeking” behavior or get past their judgement of a black male seeking medicine for pain, they would transition into a full-blown crisis.

These stories were/ are horrendous. They have lived their lives with this disease to only have their voices silenced or dismissed due to stereotypes. I wish I could say this happened infrequently.

What does the RBCs do exactly? What causes the pain that folks with SCD have?

Red blood cells are the main substance of hemoglobin which helps to carry the oxygen from the air we breathe into our lungs and to all parts of the body. A normal red blood cell is disc (round) like in shape. Our normal red blood cells last about 120 days before they are replaced by new red blood cells. Our bodies are amazing!

The round shape of a normal red blood cell allows oxygen to flow freely through the small blood vessels in our body. In a sickled cell, because of the presence of the “S hemoglobin” (S stands for sickle), the RBCs are shaped like a crescent (pointy on the ends). These red blood cells are stiff, making it very difficult to get oxygen to the vital organs. These cells only last approximately 16 days and are replaced with the same type of affected cell.

Basically, when the body does not get the oxygen it needs from the RBCs, it causes damage to those major organs. This is when the complications as a result of sickle cell disease begin.

What is effective in treating patients with Sickle Cell Disease?

• There are cases where blood and bone marrow transplants have demonstrated cure.

• Crispr is a gene technology that is very promising as well.

• Relieving pain and preventing complications is the general approach. Having medical teams who are well versed on SCD is essential. Each one, reach one, to teach one in the community on Sickle Cell Disease.

• Blood transfusions are life-saving for those impacted by Sickle Cell Disease. The American Red Cross states that 1 out of 3 black blood donors are a match for sickle cell patients. African Americans have unique structures on our red blood cells- called antigens. These antigens are inherited. Many of those with sickle cell disease will require closely matched blood. In many cases, that closely matched blood comes from those of the same ethnicity.

What is the message?

Sickle Cell Disease is real. Sickle Cell Trait is real.

As a person of color or of African Descent or Hispanic, Middle Eastern, Asian Indian descent, do you know if you have SCT or SCD? There are churches, especially in the African American faith community that will offer free sickle cell screening. Triedstone Missionary Baptist Church in Asheville NC is one such location. For instance, they offered a screening Oct. 1 during their Fall Wellness Fair.

If you have this diagnosis, make sure your family knows, your children should definitely know this. Know your family medical history.

Medical personal, do not dismiss the voice of those who have this diagnosis. “Pain is what they say it is.”

Leave your stereotypes at the door. They did not ask for this. Be an advocate. Many times, folks wait until the very last minute to come to the hospital and or clinic because of how poorly they were treated prior or how they were made to feel lesser than or underserving of care -especially if insurance is an issue.

Populations of color, donate blood. You could be a match for those in need. Call the American Red Cross and inquire of how you can be a donor. Sororities and Fraternities of color-the historical divine nine -coordinate a blood drive for sickle cell disease as a service project annually.

This is the opinion of Sharon West, a registered nurse in Asheville. Contact her at sharonkellywest@gmail.com.

This article originally appeared on Asheville Citizen Times: Sharon West: Sickle cell disease, trait differences, treatment options