Most people have heard about sickle cell, but may not know about the disease process or the implications for patients. In this post I will be sharing this information in the hopes of increasing your knowledge about sickle cell disease. Please feel free to leave a comment if there is something more you would like to know about!
To understand sickle cell disease, it is best to start with hemoglobin. For this section I would like to thank Lauren Bongo, a medical technologist at UAB Hospital Blood Bank, for her help simplifying this topic for me.
Hemoglobin is a protein inside of the red blood cells that carries oxygen. It also holds the structural integrity of the red blood cell.
You receive information from both parents to code your hemoglobin. Remember Punnett squares?Anyone having flashbacks to middle/high school science class?
There are different types of hemoglobin: A, C, S, as well as codes for the protein chains- alpha, beta, gamma (as you can see in the photo above). Most people have A type, normal hemoglobin from each parent, but others may gain abnormal types from one or both parent. Receiving one abnormal type, such as one A (normal) and one S (abnormal), would make you a carrier. Receiving two abnormal traits (SS) would manifest as disease in the blood stream. The different combinations account for the changes in severity and manifestation of disease.
SS is what we generally think of as true sickle cell disease, as the person is only making abnormal hemoglobin, which alters the cells shape. When the cell is deformed into a sickled shape it can block blood vessels, leading to a lack of oxygen to organs, bones, and other areas in the body. This can lead to severe pain.
Now that you have some background information on the disease my next post will focus on treatment, prevention of crisis, and educational interventions for patients and their families.
In the meantime, here are some quick facts:
- Sickle cell disease is a genetic blood disorder that damages and deforms red blood cells.
- Around 1 in 650 births will be affected with sickle cell disease.
- About 1 in 12 African Americans carry Sickle Cell trait.
- Sickle cell disease encompasses several disorders and abnormal patterns of hemoglobin. This accounts for the variation in severity and treatment.
- African Americans have a higher rate of sickle cell disease, however those of Mediterranean descent have higher rates of beta thalassemia (a blood disorder similar to sickle cell.)
- Sickle cell complications include: acute pain, infection, neurological complications, acute chest syndrome, stroke, heart disease, renal complications, and others.
If you would like more information you can go the following website through
PubMed health. It has some fantastic information on the disease.
Thanks!