Sideroblastic anemia: symptoms, treatment

Many people know that anemia is a pretty dangerous disease. There are many varieties of this ailment, and each of them harms human health. Sideroblastic anemia is a dangerous pathology associated with a violation of the synthesis of trace elements. With this disease, the bone marrow uses iron to combine hemoglobin, so it is deposited in the internal organs. The main thing is not to allow complications, but for this it is necessary to turn to a specialist in time for help.

The concept of

Sideroblastic anemia differs from other diseases of reduced iron concentration in erythrocytes. The point is that the bone marrow does not use this element in the synthesis of hemoglobin. Most often the disease develops as congenital or acquired. At the genetic level, anemia is found mainly in boys.

The disease can also be transmitted autosomal dominant way. This anemia is called Pearson's syndrome. When iron is poorly digested in the body, it is deposited in internal organs, which leads to sideroblastic anemia. If the gland becomes too much, the work of the liver, kidneys and heart muscle is disrupted.

Types of disease

Anemia of this type is divided by severity, and also because of the appearance and clinical picture. There are several types of sideroblastic anemia:

1. Hereditary. The disease passes by heredity as a result of mutation of the gene. This pathology is caused by the anomaly of the metabolic process with the participation of vitamin B6 and aminolevulinic acid. The disease manifests itself after birth or during adolescence.
2. Congenital. This form is singled out separately, although to some extent it belongs to the hereditary species. A high content of erythrocyte coproporphyrin is characteristic here.
3. Acquired. Appears as a result of adverse effects of chemicals. Among them are ethanol, lead, and cyclosirin.

Problems with the synthesis of iron also occur due to tumor processes in the body. Approximately 1/10 of the patients with sideroblastic anemia suffer from acute leukemia.

Causes of the disease

The main cause of the development of this disease is a shortage of protoporphyrin, which is one of the components of the synthesis of the most important element of hemoglobin. In addition to this substance, protein and iron are involved in the creation.

Acquired form of sideroblastic anemia arises from the fact that the body does not receive the necessary substances in sufficient quantities. There are situations when the necessary connections are suppressed by medications that the person takes.

The body is depleted by alcohol. Anemia can occur due to lead poisoning or the use of strong antibiotics. Hereditary form is transmitted through a female chromosome with a damaged gene. Also, the cause of the disease can be a disorder of the immune system and the development of tumor processes.

Diagnosis of sideroblastic anemia

The process of identifying this disease is rather complicated, since it proceeds almost asymptomatically. Moreover, there is no clearly expressed clinical picture that can be relied upon. If you look only at external signs, then diagnose this disease is unrealistic. However, there is one way to detect sideroblastic anemia - a blood test.

Also, the patient's internal organs are examined to find iron deposits. But by this time the element already causes hematologic symptoms. In order not to be mistaken, it is necessary to confirm the diagnosis. This is done with the help of a macroscopic examination of the bone marrow.

In order to minimize the risk, a biopsy should be performed. This procedure is the most effective way to determine sideroblastic anemia. It is carried out as follows: the biopsy is pre-stained with a special substance, and if non-synthesized iron is found, characteristic compounds become visible.

To what specialist to apply?

As already noted, the symptoms of sideroblastic anemia are almost not determined. The clinical picture is also absent, and because of this, there are certain difficulties. If a person feels fast fatigue, weakness in the body, then, as a rule, he turns to the therapist. This doctor, if suspected of anemia, redirects the patient to the hematologist who is conducting the examination.

First, the specialist finds out the general condition of the patient, is interested in the way of life, the presence of bad habits, the list of the transferred diseases, etc. If the doctor deems it necessary, he will conduct several studies. These include:

• Blood test (general and biochemical);
• Liver biopsy;
• Analysis of bone marrow composition.

The hematologist, if necessary, can refer the patient to other specialists for a more complete examination. For example, to find out the form of anemia, you need to turn to the genetics. This doctor will determine whether there is a hereditary appearance of sideroblastic anemia. You may also need advice from a gynecologist, urologist or proctologist.

Methods of treatment

Before proceeding to therapy, it is necessary to determine whether iron deposition is really occurring. For this, a desferal sample is used. It is administered intramuscularly, and as a result, about 0.5-1.1 mg of iron should be excreted in the urine, and 5-10 mg for hypochromic, hypersideremic, sidero-sacral, sideroblastic anemia.

It is worth noting that the hereditary form of the disease can not be cured. To suppress the gene that began to mutate, often use high-dose vitamin B6. It is administered in an amount of 100 mg per day. However, the reaction of the organism here is almost unpredictable. In the process of treatment of sideroblastic anemia, the hemoglobin level should rise to normal values in three months. If there is no improvement at this time, further therapy is meaningless.

Prophylaxis and prognosis

Quite often, the disease occurs as a result of lead poisoning. To prevent this, it is necessary to handle this substance with care. When renovating old houses, care must be taken to temporarily move children if possible. Do not incinerate or incinerate paint containing lead. It is best to scrape or remove them chemically. In addition, you need to regularly monitor the cleanliness of living quarters, observe construction and sanitary standards.

Cure the hereditary form of the disease is impossible. To ensure favorable effects, you must constantly monitor blood levels, especially the level of hemoglobin. This is achieved by regular course of therapy, which does not allow the disease to develop and maintain a normal human condition.