Sickle Cell Anemia - Causes, Symptoms And Treatment

2024 Author: Josephine Shorter | [email protected]. Last modified: 2024-01-07 17:49

Sickle cell anemia

Sickle cell anemia is a disease of the hematopoietic system that is inherited. Pathology is characterized by a violation of the formation of hemoglobin chains in erythrocytes.

According to ICD-10, sickle cell anemia has a code of D57, and according to ICD-9 it is assigned a code of 282.6.

Content:

• Sickle cell anemia - what is it?
• Causes of sickle cell anemia
• The mechanism of development of sickle cell anemia
• How sickle cell anemia manifests itself
• How is sickle cell disease detected?
• Sickle Cell Anemia Treatment
• Prevention and prognosis

Sickle cell anemia - what is it?

Sickle cell anemia is rightfully considered the most complex form of blood disease, inherited. In this case, instead of hemoglobin A, hemoglobin S is produced in the patient's body.

The mutated protein has an irregular structure, which gives it characteristics that it should not normally have. Red blood cells that carry hemoglobin S change their shape from a biconcave disc to a sickle shape, lengthening in size. Such erythrocytes are not particularly resistant and are rapidly destroyed in the vessels.

Most often, pathology occurs in Africa; both men and women are not affected equally. People with sickle cell anemia (both with clinical manifestations of the disease and with its latent course) are not susceptible to malaria.

Causes of sickle cell anemia

Sickle cell disease is caused by a gene mutation that is inherited. The HBB gene, which is responsible for the production of hemoglobin, suffers. As a result, in the body of a sick person, a protein with an incorrect position of the beta chain is formed (glutamic acid in this chain is replaced by valine).

In this case, hemoglobin continues to be produced, but its electrophysical properties are violated. If the body suffers from a lack of oxygen, then the protein changes its structure - it crystallizes and stretches into long chains, that is, it is transformed into hemoglobin S (HbS). Erythrocytes react to this deformation by changing their shape. They also lengthen, which leads to a thinning of their walls and destruction.

Sickle cell anemia is inherited in an autosomal recessive manner. For the pathology to make itself felt, the changed gene must be obtained from both the father and the mother. This is the so-called homozygous form, in which hemoglobin S molecules and no others will be present in the human blood.

If only one of the parents has a mutated gene, then the inheritance of the pathology will also happen, but the form of polymorphism will be heterozygous. In this case, the child himself will not suffer from anemia, but will become an asymptomatic carrier of the pathological gene. Hemoglobin A and hemoglobin S will circulate in his blood in different proportions. If a person is healthy, then anemia does not manifest itself in any way, since hemoglobin A is enough to cover all the needs of the body. With severe dehydration or hypoxia, anemia will make itself felt. A person who is an asymptomatic carrier of the mutated HBV gene can inherit it to their children.

The mechanism of development of sickle cell anemia

Erythrocytes in sickle cell anemia cease to perform their functions. Their walls become thin and brittle. In addition, hemoglobin S-carrying red blood cells are unable to transport the required amount of oxygen. They themselves cannot change shape and penetrate into the smallest capillaries.

All these pathological changes in the structure of erythrocytes and hemoglobin lead to the development of the following disorders:

• The life span of red blood cells is reduced. They quickly and massively die in the spleen.
• Modified red blood cells precipitate and accumulate in the capillaries, blocking their lumens.
• A deficiency of erythrocytes leads to their increased formation in the kidneys, and the erythrocyte lineage of the bone marrow itself is reborn.

How sickle cell anemia manifests itself

In a person, the symptoms of sickle cell anemia will be more pronounced, the weaker the health. Also, the patient's age, living conditions and the presence of concomitant diseases affect the clinical manifestations of anemia. It is customary to distinguish several groups of symptoms, including:

1. Symptoms of anemia due to accelerated destruction of red blood cells.
2. Symptoms of anemia due to blocked vascular lumen.
3. Symptoms of anemia provoked by a hemolytic crisis.

The disease does not make itself felt in children under 3 months of age. Sometimes it first appears at the age of 6 months.

Symptoms may include the following:

• Swelling in the area of the hands and feet, their soreness.
• Weakness of the muscular apparatus.
• Change in the shape of the limbs.
• Lagging in physical development in terms of the formation of motor skills.
• Dry skin, its pallor.
• With massive destruction of erythrocytes, the skin becomes yellow, which occurs due to the release of bilirubin from the destroyed erythrocytes into the blood.

Until the child reaches the age of 5-6 years, any infections may have a severe course in him, which is associated with pathological changes in the spleen. Its lumens are clogged with destroyed erythrocytes, and the organ is not able to function normally. It is the spleen in the human body that is designed to cleanse the blood of infectious agents, and lymphocytes are also formed in it. Therefore, almost any infection can lead to the development of sepsis. In this regard, parents should be especially vigilant and seek medical help for any illness.

The older the child becomes, the greater the intensity of his symptoms, caused by chronic oxygen starvation, including:

• The child gets tired quickly.
• He gets dizzy regularly.
• Shortness of breath appears.
• Physical, mental and sexual development is delayed.

Women with diagnosed sickle cell disease can have babies, but pregnancy comes with a number of complications.

Symptoms of sickle cell anemia in adolescents and adults:

• From time to time, there are painful sensations in different organs.
• Ulcers often form on the skin.
• Eyesight deteriorates.
• Renal failure may develop.
• The structure of the bones changes.
• The joints begin to hurt, swell a lot.
• Limb sensitivity worsens, paresis worries.

Hemolytic crisis is a dangerous condition for humans. With sickle cell anemia, it can be provoked by dehydration, severe hypothermia, excessive physical exertion, mountain sickness.

The following symptoms indicate a developing crisis:

• Decrease in hemoglobin levels to critical levels.
• Fainting conditions.
• High body temperature.
• The urine becomes dark in color.

How is sickle cell disease detected?

Diagnosis of sickle cell anemia begins with interviewing the patient's complaints and taking anamnesis. The symptoms that the disease gives are characteristic of many pathologies, therefore, laboratory tests are required.

The main diagnostic methods include:

• Blood sampling for clinical analysis. In this case, a decrease in the level of erythrocytes and hemoglobin in the blood will be found to levels less than 3.5-4.0 * 10 ¹² / l and 120 g / l, respectively.
• A biochemical blood test allows you to diagnose an increase in the level of bilirubin and free iron in the blood.

Additional diagnostic procedures include:

• Performing a blood test using sodium metabisulfite. When interacting with this substance, red blood cells release oxygen, after which their sickle-shaped shape can be visualized.
• Buffering blood treatment. HbS is poorly soluble in them.
• Performing hemoglobin electrophoresis, which makes it possible to visualize the modified red blood cells. Also, this method allows you to distinguish a heterozygous mutation from a homozygous one.

Other examination techniques that may be required:

• Ultrasound examination of the liver and spleen, as well as other internal organs for the detection of pathological changes in them.
• X-ray of the bones of the skeleton and spine.

Sickle Cell Anemia Treatment

Treatment of sickle cell disease involves influencing the symptoms of the disease, and is also designed to prevent the development of complications.

Therefore, when conducting therapy, you need to focus on the following principles:

• Replenish the lack of erythrocytes and hemoglobin.
• Relieve painful sensations.
• Eliminate excess iron from the body.
• Eliminate the consequences of a hemolytic crisis.

Red blood cell transfusion may be required to normalize the level of red blood cells and hemoglobin. Alternatively, the patient is injected with cytostatics (hydroxyurea), which increase the level of hemoglobin in the blood.

To relieve pain in the patient, he is prescribed analgesic drugs (Morphine, Tramadol, Promedol). When the disease is acute, drugs must be administered intravenously. After the exacerbation has been removed, they are administered orally.

You can remove excess iron from the body using certain medications, for example, with the help of Deferoxamine.

In a hemolytic crisis, the patient is shown oxygen therapy, adequate replenishment of fluid reserves, analgesics, drugs for the relief of seizures, etc.

When an infection enters the body, the patient is prescribed antibiotics to prevent sepsis. These can be drugs such as Cefuroxime, Amoxicillin, Erythromycin.

It is imperative that all patients with sickle cell disease adhere to the following medical recommendations:

• Lead a healthy lifestyle and completely give up bad habits.
• Exclude climbing.
• Eliminate excessive physical activity.
• Drink plenty of water.
• Avoid overheating and hypothermia.
• Eat healthy foods.

Prevention and prognosis

Sickle cell disease cannot be completely cured. However, if the patient adheres to all medical recommendations, then he can live up to 50 years or more.

The complications of anemia that can provoke the death of a patient include:

• Bacterial infections that can be very difficult.
• Sepsis.
• Stroke.
• Cerebral hemorrhage.
• Disturbances in the functioning of the urinary, cardiovascular and hepatobiliary systems.

As for preventive measures, they are absent. This disease develops due to genetic mutations, which science is not yet able to prevent. If a particular person in the family has had cases of sickle cell anemia, then a geneticist should be consulted before planning pregnancy. The doctor will examine the man and woman and determine the likelihood of having a child with sickle cell disease.

The author of the article: Shutov Maxim Evgenievich | Hematologist

Education: In 2013 he graduated from the Kursk State Medical University and received a diploma "General Medicine". After 2 years, completed residency in the specialty "Oncology". In 2016 completed postgraduate studies at the National Medical and Surgical Center named after N. I. Pirogov.