Sickle cell disease (SCD) is an inherited genetic disorder. Specifically, it is a disease of the red blood cells and is caused by an abnormality in the hemoglobin gene.
But, which is the function of red blood cells?
To understand sickle cell disease, we should know the function of red blood cells, which contain hemoglobin, a protein that carries oxygen. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body.
What changes occur in the red blood cell in sickle cell disease?
Fig. 1 - Sickle cell anemia. Motic Panthera CC Plan UC 40X.Moticam PROS5 Lite. Image credit: Willem Cramer
In someone who has SCD, the hemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a “sickle.” The sickle cells die early, which causes a constant shortage of red blood cells.
Sickle cells are less able to transport oxygen and are broken down faster than healthy red blood cells. A healthy red blood cell lives for 120 days, a sickle cell only for 30 days. As a result, sickle cell patients have chronic anemia. Sickle cells are less flexible so they can easily clump and clog blood vessels. This can cause pain and other serious health complications we are going to talk about below.
Sickle cell disease is a recessive genetic disease. This means that people only get the disease if they have inherited the diseased gene from both parents. People with only one diseased gene are carriers but can then pass that diseased gene on to their children. Sickle cell disease is present at birth.
How the sickle cell disease manifests in people?
Sickle cell disease does not manifest itself in the same way in everyone. One has serious complaints while the other can hardly notice it for years. The first symptoms can already arise when a baby is 4 months old. The disease is equally common in men and women.
The symptoms are similar to those of 'normal' anemia; paleness, fatigue, weakness, fainting, shortness of breath and palpitations. Jaundice can also develop due to the accelerated breakdown of sickle-shaped red blood cells. This releases a breakdown product of red blood cells with a yellow dye: bilirubin. This can cause the skin and whites of the eyes to turn yellow. In a severe attack of sickle cell anemia, fever, and severe pain in the bones (usually the limbs) can also occur. This is because sickle cells close off small blood vessels that supply the bone, causing pain.
Although millions of people around the world live with a type of sickle cell disease, it is still considered a rare condition. Over 300.000 babies with severe haemoglobin disorders, such as sickle cell anemia, are born each year.
Sample: Sickle cell anemia viewed through Motic Panthera CC Plan UC 40X and Moticam PROS5 Lite.
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