What is sickle cell anemia ?
Sickle Cell Anemia is a genetic disease that occurs when the structure of hemoglobin, which is responsible for transporting oxygen in the blood, deteriorates,
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Sickle Cell Anemia is a genetic disease that occurs when the structure of hemoglobin, which is responsible for transporting oxygen in the blood, deteriorates,, it cannot perform its task and red blood cells in the blood decrease. When tissues and organs do not receive enough oxygen, they are damaged, anemia occurs, and the body becomes open to infections.
In addition, hemoglobin, whose structure is deteriorated, also deforms its distinctive round shape, which allows red blood cells to travel freely in the vessels, and turns it into a sickle shape; This causes some small blood vessels to become clogged.
The disease is transmitted to the child as a result of genes taken from both the surrogate mother and father. When a person who is both a carrier of sickle cell disease gets married, there is a 25 percent chance that they will have children with sickle cell anemia. With a 50 percent probability, the child will also be a carrier of sickle cell disease.
With screening tests performed in newborns, the disease can be diagnosed early, which opens up the chance of treatment at an early stage.
Healthy red blood cells, aka erythrocytes, are round and move easily all over the body. In sickle cell anemia, these cells are shaped like the letter C, that is, sickle-shaped, in addition, they are hard and sticky.
People with this disease produce damaged red blood cells (sickle cells). These cells cannot live for a long time like healthy blood cells and get stuck in blood vessels
they slow down or block blood flow. This blockage prevents oxygen from reaching tissues and organs, causes severe pain attacks, and can also damage organs.
Having a smaller number of healthy red blood cells causes anemia.
In most patients with sickle cell anemia, there is no treatment to eliminate the disease, but with existing treatments, pain can be alleviated and problems that can be caused by the disease are prevented.
The reasons
Sickle Cell Anemia is a genetic disease that occurs when the structure of hemoglobin, which is responsible for carrying oxygen in the blood, deteriorates, it cannot perform its task and red blood cells in the blood decrease. When tissues and organs do not receive enough oxygen, they are damaged, anemia occurs, and the body becomes open to infections.
In addition, hemoglobin, whose structure is deteriorated, also deforms its distinctive round shape, which allows red blood cells to travel freely in the vessels, and turns it into a sickle shape; This causes some small blood vessels to become clogged.
The disease is transmitted to the child as a result of genes taken from both the surrogate mother and father. When a person who is both a carrier of sickle cell disease gets married, there is a 25 percent chance that they will have children with sickle cell anemia. With a 50 percent probability, the child will also be a carrier of sickle cell disease.
With screening tests performed in newborns, the disease can be diagnosed early, which opens up the chance of treatment at an early stage.
Healthy red blood cells, aka erythrocytes, are round and move easily all over the body. In sickle cell anemia, these cells are shaped like the letter C, that is, sickle-shaped, in addition, they are hard and sticky.
People with this disease produce damaged red blood cells (sickle cells). These cells cannot live for a long time like healthy blood cells and get stuck in blood vessels
they slow down or block blood flow. This blockage prevents oxygen from reaching tissues and organs, causes severe pain attacks, and can also damage organs.
Having a smaller number of healthy red blood cells causes anemia.
In most patients with sickle cell anemia, there is no treatment to eliminate the disease, but with existing treatments, pain can be alleviated and problems that can be caused by the disease are prevented.
Symptoms
Each patient has different symptoms and their severity varies depending on the person. Anemia: It is the most common symptom. A shortage of red blood cells causes anemia. Severe anemia causes dizziness, shortness of breath and weakness.
Pain Crises
Sickle cells cause pain when they get stuck in small blood vessels and block blood flow. Pain can occur anywhere on the body, as well as most often in the chest, arms and legs. The pain is sometimes very severe, it can last for days or weeks. Blocked blood flow can cause tissue death.
Landing
This is a sudden and serious problem that occurs with the disease. Sickle cells can block the main blood vessels that bring oxygen to the brain. Any interruption in the flow of blood and oxygen to the brain can cause severe brain damage. If you have a stroke due to this disease, you are more likely to have a second and third stroke.
Infections
Sickling blood cells damage the spleen by making a blockage, especially in the capillaries of the spleen. The spleen is an important organ of the immune system, which causes sickle cell anemia patients to face serious infections.
Besides These;
* Jaundice of the skin, eyes and mouth
* Acute chest syndrome (A condition that brings emergency intervention and can lead to death)
• Pulmonary hypertension
* Damage to organs
* Vision problems or blindness as a result of the inability to feed the retina
* Open wounds on the leg (leg ulcer)
* Priapism (Constant and painful erection due to blockage of blood vessels leading to the penis)
* Bone pain
* Formation of gallstones
* Splenic sequestration: Enlargement of the spleen and decrease in hemoglobin as a result of compression of blood cells in the spleen
Diagnostic Methods
The diagnosis of Sickle Cell Anemia is made by the following blood tests after a detailed physical examination and taking the patient's health history.
Complete Blood Count
During this test, the number of blood cells present in a certain volume of blood is checked. It is important for the detection of anemia (anemia) and infections.
Peripheral Dissemination
In this test, the shape of the blood cells is examined with the help of a microscope.
Sickling Test
As a result of the reaction of red blood cells with certain chemicals, it is observed whether they become sickled or not.
Hemoglobin Electrophoresis
Hemoglobin contained in red blood cells is different in patients with sickle cell anemia due to some characteristics, and these differences are diagnosed by revealing electrophoresis.
Being a carrier or patient of sickle Cell anemia is not an obstacle to getting married or having children. In areas where the disease is intense, pre-wedding tests are mandatory, but they do not prevent marriage. The purpose is to inform only couples who are going to get married.
It is not possible to detect the carrier without a blood test, and most carriers do not know that they are carriers unless this test is performed specifically. Therefore, people in the high-risk group should have a blood test to find out if they are carriers
Genetic counseling is also performed before having a child and for risky parents to detect the disease at an early stage, Preimplantation genetic diagnosis is also performed for obtaining healthy embryos if both parents are carriers, and scans are performed during pregnancy.
The disease can be detected by fetal blood sample taken at 19.20 weeks of pregnancy, amniocentesis and cordiocentesis.
Treatment Methods
There is no definitive cure for Sickle Cell Anemia, but various treatments are being applied to reduce complaints and prevent organ damage.
Transplantation of stem cells found in the bone marrow gives positive results in some patients.
Early diagnosis and prevention of damage that may occur in the body due to the disease are critical in treatment. Treatment goals include preventing organ damage (including strokes), Decontaminating infection, and treating symptoms. Treatment may include:
Treatment Options
Pain
Drug therapy to prevent and reduce the severity of attacks
Blood transfusion (Erythrocyte suspension transplant)
It is used to prevent anemia and strokes. Drug therapy is also required to prevent excess iron accumulation in the body after the transfer.
Blood transfusions are also used to dilute sickled hemoglobin with normal hemoglobin. With the transplant, chronic pain, acute chest syndrome, spleen sequestration and other emergency conditions are also treated.
Infections
Preventive measures against infections and infection treatments. Vaccinations (Pneumococcal vaccine, Hemophilus influenza vaccine, influenza vaccine) and antibiotics can be used. In addition, it is important to protect against diseases such as flu, colds, especially in winter.
Folic Acid
It helps to prevent severe attacks of anemia.
Hydroxyurea
This drug helps to reduce the frequency of pain attacks and acute chest syndrome. It can also help reduce the need for blood transfusions. It reduces the proportion of sickled hemoglobins by increasing the production of Hemoglobin F, which should only be present in the womb under normal conditions.
Regular Eye Examinations
These are done to screen for an eye disease called retinopathy.
Bone Marrow (Stem Cell) Transplantation
Sickle Cell anemia patients need to drink 8-10 glasses of water a day to prevent and relieve pain attacks. To improve the quality of life and alleviate complaints, although the disease is not completely prevented
* A diet rich in fruits, vegetables, whole grains and protein,
* Adequate sleep
* Abundant fluid consumption is recommended.
In addition, patients should avoid conditions such as the following, which cause sickling due to reduced oxygenation:
• High altitude
* Cold weather
* Swimming in cold water
• Excessive effort registrant jobs