Thalassemia - what is it? Causes, symptoms, diagnosis and treatment of thalassemia

Currently, there are a huge number of hereditary diseases that a child receives along with genes from mom or dad. For some to manifest, it is necessary that both parents pass on their inferior gene to their baby. These diseases include thalassemia. What is this disease, few know. In our article, we will try to deal with this.

What is thalassemia

This is not even one, but a whole group of hereditary blood diseases that have recessive inheritance. That is, the child will receive it if both parents pass the sick gene to him. In this case, they say that there is homozygous thalassemia. The disease is characterized by the fact that hemoglobin production is disrupted, and it plays a major role in the transport of oxygen through the body.

Hemoglobin is a protein, which in its composition has a protein part and a pigment. The first consists of polypeptide chains: two alpha and two beta. Failure can occur in any of them, hence the alpha thalassemia and beta thalassemia.

Violation of hemoglobin synthesis leads to a reduction in the life span of red blood cells, and this entails oxygen starvation of cells and tissues. This process launches a whole chain of reactions leading to the formation of various pathologies in the body.

Disease classification

There are several approaches to the classification of this disease. If we consider in which circuit a failure occurred, then we can distinguish:

• alpha thalassemia;
• beta thalassemia;
• delta thalassemia.

In each case, the severity of symptoms may vary significantly. Given this, emit:

• light form;
• average;
• heavy.

Depending on whether the child received the gene from both parents or from one, the disease is divided into:

1. Homozygous, in this case, the sick gene passes from mom and dad. This form is called even greater thalassemia.
2. Heterozygous. Inherited only from one of the parents.

All varieties are characterized by their symptoms and severity.

Causes of the disease

Each disease has its own causes, thalassemia is also formed under the influence of genes that the child receives from parents. This genetic disease is particularly complex, but it is also the most common in the world.

Thalassemia is inherited in a recessive manner through the parents autosome. This means that the probability of getting sick is 100% from the one who received defective genes from mom and dad on this basis.

A disease develops when a mutation occurs in the genes that are responsible for the synthesis of hemoglobin. The alpha form of this disease is quite common in the Mediterranean, in Africa. Some associate thalassemia with malaria, as outbreaks of the disease are often observed in these regions.

Plasmodium malaria is credited with the fact that a mutation occurs in the genes and thalassemia develops, the photo shows that a large number of cases are also found in Azerbaijan, about 10% of the total population. This confirms that the prevalence of the disease is associated with mutations, and climatic conditions also affect the mutation process.

Symptoms of the Great Thalassemia

If a baby develops a homozygous or large thalassemia, the symptoms begin to appear almost immediately after birth. These include:

1. A skull shaped like a tower.
2. The face has a Mongoloid appearance.
3. The upper jaw is enlarged.
4. After some time, expansion of the nasal septum can be noted.
5. When diagnosed with thalassemia, a blood test shows hepatomegaly, which will ultimately end in the development of liver cirrhosis and diabetes. A broken blood formula will lead to the deposition of excess iron in the heart muscle, and this is already fraught with heart failure.
6. Due to impaired hemoglobin synthesis, tissues and cells experience constant oxygen starvation, which leads to the appearance of multiple pathologies throughout the body.
7. The child is behind in both mental and physical development.
8. Closer to one-year-old age, bone proliferation on the feet due to destruction of the cortical layer of bones can be noted.
9. An ultrasound scan shows an increase in the spleen
10. Yellowness of the skin.
    

If the child is diagnosed with thalassemia, the symptoms are pronounced, that is, there is a high probability that he will not survive until his second birthday.

Symptoms of Lesser Thalassemia

When inheriting pathology from only one of the parents, we can talk about small or heterozygous thalassemia. Since there is a second healthy gene in the genotype, it significantly smoothes out the manifestation of the disease, and the symptoms may not appear at all or give a smoothed picture.

Small thalassemia has the following main symptoms:

1. High and quick fatigue.
2. Reduced performance.
3. Frequent dizziness and headache.
4. Pale skin with signs of jaundice.
5. The spleen may also be enlarged.

Despite the mild symptoms, the danger lies in the fact that the susceptibility of the body to all infections is greatly increased.

Diagnosis of the disease

Medicine has the opportunity to diagnose thalassemia in the early stages of development, the diagnosis is based on laboratory blood tests. They immediately show that hemoglobin has a disturbed structure. You can even determine in which of the chains there are deviations.

In young children, thalassemia symptoms appear quite clearly, so there is usually no difficulty in making such a diagnosis. Parents, before deciding to have a baby, must undergo an examination, especially if the family has a gene carrier or a patient.

Diagnosis of thalassemia is possible already in early pregnancy, amniotic fluid is taken for analysis and examined. In it, the red blood cells of the fetus are always restrained, the study of which can establish the presence of pathology.

Early diagnosis is very important because it is possible to begin treatment without waiting for the birth of a child, which will give the most effective result.

Beta thalassemia

If a beta-variant of the disease is formed, then the synthesis of beta-chains of hemoglobin is disrupted in the body. They are responsible for the production of hemoglobin A, which in an adult is 97% of the total number of molecules. If you understand, beta-thalassemia - what is it, then we can say, based on a blood test, that there is a decrease in the number of beta chains, but their quality does not suffer.

The reason is gene mutations that disrupt the functioning of the genes responsible for the synthesis of chains. At present, it has already been established that there are not only mutations causing disturbances in the work of genes, but there are also some DNA sections that affect the manifestations of these mutations. As a result, it turns out that in people with the same mutations in the genes responsible for hemoglobin synthesis, the degree of manifestation of the disease can vary greatly.

Varieties of Beta Thalassemia

The clinical picture of the disease can be different, depending on this beta thalassemia is divided into several groups. Not everyone is familiar with the concept of thalassemia, that this disease depends on many genetic factors, and not everyone knows it.

There are several states of genes that control the production of beta chains:

1. Normal gene. It is in this state that he is found in all healthy people.
2. A gene virtually destroyed by a mutation. The beta chain is not synthesized at all.
3. A partially damaged gene can only partially do its job, so the synthesis of chains is proceeding, but in insufficient quantities.

Given all this, the following types of thalassemia are distinguished:

1. Thalassemia minor. A mild form of the disease is formed under the influence of only one damaged gene. By external indicators, a person is completely healthy. Only in blood tests, a small anemia and a small size of red blood cells are diagnosed.
   
2. Thalassemia intermedia. There is already a serious lack of beta chains. The formation of hemoglobin is significantly impaired, and underdeveloped red blood cells are also formed. Anemia is already evident, but continuous transfusions are not needed. Although over time this form can develop into a more severe one, everything will depend on the body's ability to adapt to hemoglobin deficiency.
3. Thalassemia major. The mutation affects all genes responsible for the synthesis of beta chains. Such thalassemia (photos of patients can be seen in the article) requires continuous blood transfusions in order to save the patient's life.

Alpha thalassemia

In hemoglobin, in addition to beta, there are also alpha chains. If their synthesis is disrupted, then we can talk about such a form as alpha-thalassemia. The disease is manifested by the formation of only the beta chain, and this is fraught with the fact that hemoglobin of this structure will not be able to fulfill its main purpose - to transfer oxygen.

Manifestations of the disease will depend on the severity of the mutation of the genes that control the synthesis of alpha chains. This process, as a rule, is controlled by two genes, one child receives from the mother, and the second from the father.

Species of alpha thalassemia

Depending on the degree of gene mutation, this form of the disease is divided into several groups:

1. A mutation of one locus of the gene occurs. In this case, clinical manifestations may not be observed.
2. The defeat occurs at two loci, and they can be on the same gene or on different. In a blood test, a low level of hemoglobin and small red blood cells are well diagnosed.
3. Three loci in the genes are susceptible to mutation. Disrupted oxygen transfer to tissues and organs. In some cases, an enlargement of the spleen still occurs.
4. Mutation at all loci leads to a complete lack of synthesis of alpha chains. With this form, fetal death occurs even inside the womb or immediately after birth.
   

If the mild form of alpha-thalassemia, treatment may not be necessary, but with a severe variety you will have to be under the control of doctors all your life. Only regular courses of therapy can improve a person’s quality of life.

Thalassemia treatment

We figured out thalassemia - what kind of disease it is. Now you need to focus on treatment. It can be noted that therapy is aimed at maintaining hemoglobin at the required level and eliminating the strong load of the body from a large amount of iron. Also, the following measures can be attributed to treatment methods:

1. In severe forms of the disease, regular transfusion of blood or red blood cells is required. But this measure gives only a temporary effect.
2. Recently, transfusion of thawed or filtered red blood cells has been done. This gives a lesser side effect.
3. If a severe form of thalassemia is diagnosed, treatment is also supplemented with almost daily administration of iron chelate.
4. If the ultrasound shows an oversized spleen, then remove it. This operation is not done for children under the age of five. Despite the fact that after removal, an improvement is observed, but after a while, deterioration and increased risk of various infections are again noticeable.
5. A bone marrow transplant is considered the most effective treatment, but it’s very difficult to find a donor for this procedure.
6. It is necessary to introduce into your diet products that reduce the absorption of iron, for example, nuts, soy, tea, cocoa.
7. Take ascorbic acid, it helps to remove iron from the body.
   

In addition to the listed methods of treatment, symptomatic therapy is also carried out, which alleviates the patient's condition.

Disease prevention

For doctors and geneticists, it is clear if there is a diagnosis of thalassemia that this is not treatable. We have not yet found ways and methods to cope with this disease. But still there are measures to prevent it. The following preventive measures can be called:

1. Carrying out prenatal diagnosis.
2. If both parents have this disease, then it is imperative to diagnose the fetus in order to identify this pathology. In some cases, you may need to terminate the pregnancy.
3. If you have relatives with such a diagnosis in your family, then it is advisable to visit genetics before planning a pregnancy.

Each organism has a huge number of mutating genes, it is impossible to practically predict where and when a mutation will occur. For this, there are genetic consultations to help couples sort out their family tree, or rather, diseases that are transmitted from one generation to another.

The prognosis for patients with thalassemia

Depending on the severity and form of the disease, the prognosis may be different. Patients with small thalassemia live a normal life, and its duration practically does not differ from the life expectancy of healthy people.

In beta-thalassemia, a small proportion of patients survive to puberty.

The heterozygous form of the disease practically does not require treatment, but with a homozygous, and even severe form, regular blood transfusion is necessary. Without this procedure, the patient’s life is almost impossible.

Unfortunately, thalassemia currently refers to those diseases that science has not yet learned to cope with. You can only to some extent keep her in control.