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

Currently, there is a huge number of hereditary diseases that the child receives along with the genes from mom or dad. For the manifestation of some it is necessary that both parents transfer to their kid an inferior gene. Thalassemia belongs to such diseases. What is this disease, know a few. In this article we will try to understand 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 in the event that both parents give him a sick gene. In this case, they say that there is homozygous thalassemia. The disease is characterized by the fact that the development of hemoglobin 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 pigment. The first consists of polypeptide chains: two alpha and two beta. Failure can occur in any of them, hence there is alpha-thalassemia and beta-thalassemia.

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

Classification of the disease

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

• Alpha thalassemia;
• Beta-thalassemia;
• Delta-thalassemia.

In each case, the severity of the symptoms may vary significantly. With this in mind, there are:

• 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. It is inherited only from one of the parents.

All varieties are characterized by their symptoms and the severity of the course.

Causes of the disease

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

Thalassemia is inherited by the recessive type through the autosome of the parents. This means that the likelihood of getting sick is 100% for someone who, from mom and dad, received defective genes for this symptom.

The 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 in these regions outbreaks of this disease are often noted.

The malarious plasmodia is attributed to the fact that a mutation occurs in the genes and thalassemia develops, the photo demonstrates that a large number of cases occur 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 large thalassemia

If the child develops homozygous or large thalassemia, the symptoms begin to appear almost immediately after birth. To them it is possible to carry:

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

If a child has a diagnosis of thalassemia, the symptoms are pronounced, that is, there is a high probability that he will not live to his second birthday.

Symptoms of small thalassemia

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

Thalassemia small has such basic symptoms:

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

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

Diagnosis of the disease

In medicine, it is possible to put the diagnosis of thalassemia at early stages of development, diagnosis is carried out on the basis of laboratory blood tests. They immediately show that hemoglobin has a disturbed structure. You can even determine which of the chains there are deviations.

In young children, thalassemia symptoms are quite bright, so there is usually no difficulty with the diagnosis. Parents, before deciding to have a baby, should undergo a screening, especially if the family has a gene carrier or a patient.

To diagnose thalassemia is possible already in the early stages of pregnancy, take an amniotic fluid for analysis and examine it. It always keeps the red blood cells of the fetus, in the study of which it is possible to establish the presence of pathology.

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

Beta-thalassemia

If a beta-form of the disease is formed, then the synthesis of beta-chains of hemoglobin is broken 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 it is, we can say, relying on a blood test, that there is a decrease in the number of beta chains, but their quality does not suffer from this.

The cause is the gene mutation, which disrupts the work of genes responsible for the synthesis of chains. It has now been established that there are not only mutations causing disorders in the functioning of genes, but there are also some sections of DNA that affect the manifestations of these mutations. As a result, it turns out that in people with the same mutations of genes responsible for the synthesis of hemoglobin, the degree of manifestation of the disease can be very different.

Varieties of beta-thalassemia

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

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

1. The normal gene. It is in this condition that it is found in all healthy people.
2. Almost destroyed gene mutation. The beta chain is not synthesized at all.
3. A partially damaged gene can only partially do its job, so the synthesis of the chains goes on, but in insufficient quantities.

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

1. Thalassemia minor. An easy form of the disease is formed under the influence of just one damaged gene. By external indicators, a person is perfectly healthy. Only in blood tests is diagnosed a small anemia and small size of red blood cells.
2. Thalassemia Intermedia. There is already a serious shortage of beta chains. The process of formation of hemoglobin is significantly impaired, and underdeveloped erythrocytes are also formed. Anemia is already evident, but permanent transfusions are not needed. Although over time this form can grow into a heavier one, everything will depend on the body's ability to adapt to the lack of hemoglobin.
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 constant 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 violated, then we can talk about a form such as alpha-thalassemia. The disease manifests itself in the formation of only the beta chain, and this is fraught with the fact that hemoglobin of such a structure can not fulfill its main purpose - to transfer oxygen.

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

Varieties of alpha thalassemia

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

1. There is a mutation of one locus of the gene. In this case, it is possible and not to observe clinical manifestations.
2. The lesion occurs in two loci, and they can be on the same gene or on different ones. In a blood test, low hemoglobin and small red blood cells are well diagnosed.
3. Three loci in genes are mutated. Disruption of oxygen transfer to tissues and organs. In some cases, there is an increase in the spleen.
4. Mutation in all loci leads to complete absence of synthesis of alpha chains. With this form of fetal death occurs even inside the womb of the mother or immediately after birth.

If mild form of alpha-thalassemia, treatment may not be needed, but with a severe variety it will have to be under the control of doctors all life. Only regular courses of therapy can improve the quality of human life.

Thalassemia Treatment

We sorted it out, thalassemia - what kind of disease is it. Now it is necessary to stop on treatment. It can be noted that the therapy is aimed at maintaining hemoglobin at the required level and eliminating the body's heavy load from a large amount of iron. The following measures can also be applied to treatment methods:

1. When a severe form of the disease requires a regular blood transfusion or erythrocyte mass. But this measure only gives a temporary effect.
2. Recently, transfusion of thawed or filtered red blood cells is done. This gives a lesser side effect.
3. If severe thalassemia is diagnosed, treatment is also supplemented by the almost daily administration of iron chelate.
4. If the ultrasound shows an enlarged spleen, then it is removed. This operation is not done for children up to the age of five. Although there is an improvement after removal, but after a while, the worsening and increased risk of various infections are again visible.
5. The most effective method of treatment is bone marrow transplantation, but it is 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 these methods of treatment, symptomatic therapy is also carried out, which facilitates the patient's condition.

Prevention of disease

For doctors and geneticists it is understandable, if there is a diagnosis of thalassemia, that this is not curable. 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 named:

1. Conducting prenatal diagnostics.
2. If both parents have this disease, then it is mandatory to diagnose the fetus in order to identify this pathology. In some cases, it may be necessary to interrupt pregnancy.
3. If you have relatives with such a diagnosis, it is advisable to visit genetics before planning a pregnancy.

In every organism there is a huge amount of mutating genes, it is impossible to predict in practice where and when a mutation will appear. For this, there are genetic consultations to help married couples understand their pedigree, or rather, the diseases that are transmitted from one generation to another.

Prognosis for thalassemia patients

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

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

The heterozygous form of the disease practically does not require treatment, but for homozygous, and even severe, it is necessary to do regular blood transfusion. Without this procedure, the patient's life is almost impossible.

Unfortunately, thalassemia currently belongs to those diseases that science has not yet learned to cope with. You can only to some extent keep it under control.