What is sickle cell anemia?
Sickle cell anemia, which is seen especially in Adana, Mersin and Antakya regions of our country, is the inability of red blood cells in the blood to fulfill their function due to the deterioration of their structure. The deterioration of the structure of red blood cells, also called hemoglobin, causes a decrease over time. Sickle cell anemia, which is one of the genetic diseases, causes the tissues to not receive enough oxygen and also causes the body to become more susceptible to infections. The disruption of the round shape of red blood cells and their sickle shape can also cause blockage of thin blood vessels.
Causes of sickle cell anemia
Sickle cell anemia is a genetically inherited disease. 6 of the beta chain of hemoglobin. mutation during the course of the disease. This mutation causes the amino acid valine to replace the amino acid glutamine, which is normally found in red blood cells. This change may seem simple, but it causes red blood cells to form an S-shape.
How is sickle cell anemia diagnosed? (Test)
In order to diagnose sickle cell anemia, the patient’s health history is taken and a detailed physical examination is performed. Various tests are then applied.
Complete blood count
A complete blood count measures the number of blood cells in the blood. A complete blood count makes it possible to detect not only anemia but also infections.
Peripheral smear
In a peripheral smear test, blood cells are examined under a microscope. This determines the shape of the cells.
Sickling test
In this test, certain chemicals are applied to the red blood cells. The reaction of red blood cells with these chemicals is checked to see if the cells become sickled.
Hemoglobin electrophoresis
Red blood cells in sickle cell anemia patients differ from normal blood cells because of their properties. Electrophoresis testing can reveal these differences.
Symptoms of sickle cell anemia
The first symptoms of sickle cell anemia, a congenital disease, are usually the first signs of sickle cell anemia when babies are 6. months of the year. 6. In babies in their first month, hemoglobin F, called fetal hemoglobin, rises in the blood and this often causes hand-foot syndrome. The majority of patients consult a doctor with these complaints. The symptoms of sickle anemia can be divided into immediate and long-term side effects.
Sudden onset of symptoms
The most important and characteristic symptom of sickle cell anemia is pain attacks. These pains, which especially affect the bones of the patients, also affect the internal organs in some patients. These crises with severe pain can occur 1 to 2 times a year.
Another symptom seen in sickle cell anemia is hematologic symptoms. The nature of the disease involves the destruction of blood cells. However, in hematologic crises this destruction occurs more rapidly. In particular, there is a great increase in the destruction of red blood cells due to factors such as patients drinking less water, infection, cold or heat. The symptoms of these crises include yellowing of the skin, profound anemia and yellowing of the color of urine.
In addition to hematologic crisis, patients may also experience a condition called aplastic crisis. In an aplastic crisis, the bone marrow completely stops or minimizes the production of blood cells. In aplastic crises, not only the production of red blood cells slows down, but also the production of white blood cells. Blood platelets may also not be produced. Aplastic crisis is generally thought to be caused by viral infections.
Another symptom seen in sickle cell anemia patients is megaloblastic crisis. In megaloblastic crisis, there is an additional anemia in addition to sickle cell anemia due to a deficiency of B12 and folic acid.
Sudden lung syndrome is also one of the symptoms of sickle cell anemia. The symptoms of sudden pulmonary syndrome include severe lung infection, sputum, fever, lung infiltration and shortness of breath. These symptoms can lead to death as they cause a serious medical condition.
Priapism caused by sickle cell anemia is an involuntary painful erection. If left untreated, it causes infertility.
Another serious symptom of sickle cell anemia in childhood is splenic sequestration. The disease causes continuous damage to the spleen, causing it to shrink over time. This makes patients vulnerable to infections. In some patients, the opposite is the case. This causes the spleen to become extremely large and bleed into it. This is an extremely serious clinical picture. For this reason, it must be strictly monitored.
Symptoms seen in the chronic phase
Sickle cell anemia patients are born with normal weight and height. However, their development is affected during the growth period. Weight gain is more affected by the disease than height. For this reason, the height of patients in adulthood is normal or close to normal. On the other hand, the onset of menstruation is delayed by 2 to 3 years compared to the population. Some patients have hormonal deficiencies.
In sickle cell anemia, the overproduction of erythrocytes causes the inside of the bone to expand and the outside to thin. This is particularly evident in the skull. In addition, the upper and lower parts of the bodies of the vertebrae collapse inwards and this is called a fish-mouth vertebra.
Small blockages in the bones of patients are seen in the first 4 years of life. This condition, called hand-foot syndrome, not only causes swelling of the hands, feet and face, but also causes patients to experience pain. Hand-foot syndrome is also thought to be responsible for the deformities seen in patients in adulthood.
One of the most serious symptoms of the disease is stroke. Stroke in children is associated with reduced language learning, difficulty in problem solving and mental retardation. In addition, silent vascular occlusions are found in 17% of children with stroke between the ages of 6 and 14.
Symptoms of chronic sickle cell anemia include symptoms affecting the cardiovascular system. These include excessive iron deposition in the heart muscle and blockage of small pulmonary vessels. In addition, heart enlargement is caused by the heart beating harder and harder to pump the insufficient blood better. Especially enlargement of the right ventricle can lead to heart failure. The iron that accumulates in the heart muscles due to continuous blood transfusions can cause treatment-resistant heart failure and may also be the cause of various arrhythmias.
The lungs are also affected by sickle cell anemia. For this reason, patients may experience moderate lung failure associated with recurrent obstructions and infection.
Liver enlargement in patients occurs after the age of 1 year. This growth, which lasts a lifetime, is moderate. In addition, gallstones are also frequently seen in sickle cell anemia patients. With increasing age, stones in the gallbladder also increase.
One of the most characteristic features of sickle cell anemia is impaired urine concentration. For this reason, approximately half of the patients show blood cells in the urine.
Another organ affected by the disease is the eye. In addition to blockage of retinal vessels, the formation of new vessels causes the disease to affect the eye. These changes can lead to scarring, bleeding, blindness and retinal detachment.
Treatment of sickle cell anemia
There is no definitive treatment for sickle cell anemia, but the disease can be controlled. These treatments, which are aimed at controlling symptoms, are divided into preventive and complication treatment.
Protective measures
For the treatment of sickle cell anemia, a treatment method to prevent intravascular sickling has not yet been discovered. For this reason, preventive measures constitute the most important area of treatment for patients. For this, patients should be given fluid support to tolerate fluid loss, especially during periods of febrile illness.
In addition, patients always need folic acid. For this reason, regular folic acid supplementation is necessary. The use of folic acid is especially important for patients during pregnancy.
In addition to these measures, patients should have regular vaccinations to protect against infections. These vaccines include penicillin prophylaxis, pneumococcal and influenza vaccines for preventive purposes. In this way, the risk of infection is significantly reduced and the risk of mortality is also reduced.
In the case of iron accumulation in sickle cell anemia patients, chelator drugs are given to bind iron.
Treatment of complications
Complication treatment is applied to eliminate the complaints caused by the disease seen in patients.
Painful crisis
The most important point in the treatment of painful crises caused by blockage of thin blood vessels is to ensure that patients are adequately hydrated. In addition to intravenous supplementation, patients should be in a warm environment. In addition, other problems that may be caused by vascular blockages should be monitored.
Splenic sequestration crisis
An attack of splenic sequestration, a sudden enlargement of the spleen, usually occurs in children. Enlargement of the spleen will cause its volume to shrink, which is characterized by shock and needs to be treated urgently. Emergency medical care includes removal of the spleen, blood transfusion and fluid replacement.
Leg ulcer
In cases of acute leg ulcers, dressings and bed rest are applied. However, for chronic or rapidly progressing leg ulcers, skin patches are used in addition to blood transfusions.
Retinal disorders
In appropriate cases, capillary freezing is necessary to prevent blindness and other eye problems caused by the disease.
The difference between thalassemia and sickle cell anemia
Both thalassemia and sickle cell anemia are diseases that are seen in the same geography and are confused with each other because they are anemia diseases. However, the two diseases are different from each other. In sickle cell anemia, patients have enough or even more red blood cells. But their shape is not favorable for carrying oxygen. On the other hand, in thalassemia patients, red blood cells are either not produced at all or are produced in very small amounts.
