What you need to know about sickle cell

blood cell
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Blood is responsible for delivering nutrients and oxygen to the lung and tissues of the body. It also plays an important role in immunity. One of the most important cells found in blood is red blood cells which contain a protein known as hemoglobin. This is what gives blood its signature red color.اضافة اعلان

The main role of red blood cells is delivering oxygen to tissues and removing the waste, which is later exhaled as carbon dioxide. Red blood cells are normally round, flexible, and disk-shaped, which is important to solubilize gases properly.

In sickle cell disease, the shape of red blood cells changes dramatically as it will no longer be a disk shape but instead take on a rigid form in the shape of a C.

And any condition that affects red blood cells can greatly impact overall health.

Sickle cell disease is an inherited blood disorder directly linked to certain gene mutations. There are different types of sickle cell disease, but all result in a structural deformity of hemoglobin.

To have sickle cell disease, an individual must have inherited mutated genes from both parents. This is because this particular mutation is autosomal recessive, meaning that the disease does not present unless both genes are inherited.

Depending on the severity of the disease, a person can develop sickle cell anemia. If a person only has one gene, they are considered a carrier for the disease, often referred to as sickle cell trait.

Since carriers typically present with no or minimal symptoms, it is difficult to estimate the prevalence of sickle cell trait patients. However, since sickle cell disease is more observable, the prevalence of this disease is more established.
To have sickle cell disease, an individual must have inherited mutated genes from both parents.
Globally, it is currently estimated that 300 million people have the sickle cell trait, and 6.4 million live with sickle cell disease. This gives sickle cell disease a prevalence rate of slightly under 0.1 percent.

Jordan has a relatively high prevalence rate. According to a 2021 study conducted in the Kingdom, the prevalence rate is expected to be 0.7 percent, although many earlier studies in Jordan place the prevalence rate between 0.44 to 6 percent.

Gene mutations
Different gene mutations in various combinations can cause sickle cell disease. These different types typically affect prognosis and manifestation of symptoms. There are four major types of sickle cell disease, and each refers to an inherited gene.

Hemoglobin SS disease is the most common form of sickle cell disease and is often considered the most severe form, with the worst symptoms at a higher rate. In this form, the individual inherited two hemoglobin S genes.

Hemoglobin SC disease occurs when an individual inherits a hemoglobin S gene and a hemoglobin C gene. The symptoms are similar to hemoglobin SS disease but often less severe.

Globally, hemoglobin SC disease is the second most common, but in Jordan, the second most common is hemoglobin SB+ (beta) thalassemia.

Hemoglobin SB+ thalassemia affects the production of a specific component of hemoglobin. As a result, the size of the red blood cell is smaller, but fortunately, symptoms are less severe.

The last type is hemoglobin SB 0 (beta-zero) thalassemia which also involves a disruption in hemoglobin production. The symptoms for this type are similar to that of hemoglobin SS; however, in certain cases, symptoms may be worse and are often associated with a poorer prognosis.

Sickle cell symptoms
As mentioned previously, those with the sickle cell trait typically do not have any symptoms. This is because the trait rarely leads to deformity in the red blood cells.

On the other hand, sickle cell disease has many associated symptoms and complications. One of the main symptoms of sickle cell disease is sickle cell anemia. A healthy red blood cell lives for up to 120 days, in those with sickle cell, the red blood cell only lives for roughly 10–20 days. As a result of this high turnover rate, the body cannot produce enough red blood cells.

The lack of red blood cell production, in combination with sickle cell’s inherited inability to properly bind to oxygen, many exacerbated symptoms associated with lack of oxygen can occur. This includes fatigue, shortness of breath, low oxygen supply to tissues, irregular heartbeats, and dizziness.

Red blood cells’ shape can also affect how the blood flows. Normally, the cell is smooth, allowing it to pass through vessels and across other cells more easily. In sickle cell disease, the irregular C shape of the cells can make movement difficult and potentially cause them to bunch together. As a result, blood clots can form and are responsible for many severe complications associated with sickle cell disease.

Furthermore, sickle cell disease can increase the risk of infection. The spleen is an organ found in the abdomen which serves many roles, one of which is aiding in immunity. This organ helps filter bacteria from the blood and helps produce antibodies. In the early years of life, the irregularly shaped cell can block the blood supply to the spleen and damage it, thus increasing susceptibility to infection.

Blood clots
Almost all of the serious complications relate to that of clots being formed. Clots can be painful or cause damage and are typically known as sickle cell crises. They can be caused by different situations such as illness, changes in temperature, stress, poor hydration, or high altitude.

Pain resulting from a sickle cell crisis can be severe and last up to seven days on average. One of the most common first signs of sickle cell disease is hand-foot syndrome, which can occur in infancy. This syndrome is caused by clots blocking the blood vessels that supply to the hands or feet. It will ultimately cause swelling and potentially cause leg ulcers.

Blindness is another complication of sickle cell disease, which can result due to blockages in the eye.

Individuals with sickle cell disease may also experience delayed growth. But it is ultimately regained in adulthood.

More severe complications of sickle cell disease that can affect the brain, heart, or lungs exist as well. Clots in the brain can result in serious conditions such as seizures, stroke, or even a coma.
Pain resulting from a sickle cell crisis can be severe and last up to seven days on average.
If an individual experiences any symptoms relating to neurological complications, they are urged to seek immediate treatment. These clots can also affect the heart, which can cause heart attacks, heart failure, or abnormal heart rhythm.

Sickle cell disease can seriously impact the lungs due to decreased blood flow, which can cause damage and scarring known as pulmonary fibrosis, as well as high blood pressure in the lungs known as pulmonary hypertension. These can be early signs of a serious condition known as sickle chest syndrome.

Sickle chest syndrome is a very severe crisis that causes severe chest pain and is associated with hacking coughs, fever, shortness of breath, and low blood oxygen levels. This is typically secondary to pneumonia or lung tissue death, known as pulmonary infarction.

Those who have sickle chest syndrome have a poorer long-term prognosis compared to those who do not.

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