Sideroblastic anemia: symptoms, treatment

Many people know that anemia is prettydangerous disease. There are many varieties of this disease, and each of them brings harm to human health. Sideoblastic anemia is a dangerous pathology associated with impaired synthesis of microelements. In this disease, the bone marrow uses iron to combine hemoglobin, so it is deposited in the internal organs. The main thing - to prevent complications, and for this you need to promptly seek the help of a specialist.

The concept of

Sideoblastic anemia differs from other typesdiseases of a reduced concentration of iron in red blood cells. The fact is that the bone marrow does not use this element in the synthesis of hemoglobin. Most often the disease develops as innate or acquired. At the genetic level, anemia occurs mainly in boys.

The disease can also be transmittedautosomal dominant way. This anemia is called Pearson syndrome. When iron is poorly absorbed in the body, it is deposited in the internal organs, which leads to sideroblastic anemia. If the gland becomes too much, the liver, kidneys and heart muscle are impaired.

Types of disease

Anemia of this type is divided by severity, as well as due to the appearance and clinical picture. There are several types of sideroblastic anemia:

1. Hereditary. The disease is inherited as a result of gene mutation. This pathology is caused by an abnormality of the metabolic process with the participation of vitamin B6 and aminolevulinic acid. The disease makes itself felt after birth or in adolescence.
2. Congenital This form is isolated separately, although to some extent it belongs to the hereditary form. It is characterized by a high content of erythrocyte coproporphyrin.
3. Acquired. Appears as a result of the adverse effects of chemicals. Among them emit ethanol, lead, cyclospirin.

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

Causes of the disease

The main cause of this diseaseis the lack 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 anemiaarises from the fact that the body does not receive the necessary substances in sufficient quantities. There are situations when the necessary compounds are suppressed by medicines that a person takes.

The body is depleted due to exposureof alcohol. Anemia can occur due to lead poisoning or taking strong antibiotics. The hereditary form is transmitted through the 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 quitedifficult, as it is almost asymptomatic. Moreover, there is no pronounced clinical picture on which to rely. If you look only at external signs, then it is impossible to diagnose this disease. However, there is one way to detect sideroblastic anemia - a blood test.

They also practice examination of internal organs.patient to find iron deposits. But by this time, the element already causes hematological symptoms. In order not to be mistaken, it is necessary to confirm the diagnosis. This is done using a macroscopic examination of the bone marrow.

In order to minimize risk,need to do a biopsy. This procedure is the most effective way to determine sideroblastic anemia. It is carried out as follows: the bioptat is pre-stained with a special substance, and if un-synthesized iron is detected, characteristic compounds become visible.

Which specialist to contact?

As already noted, sideroblastic symptomsanemia is practically undetermined. The clinical picture is also absent, and because of this, certain difficulties arise. If a person feels fatigue, weakness in the body, then he, as a rule, refers to the therapist. This doctor, if anemia is suspected, redirects the patient to a hematologist who conducts the examination.

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

• blood test (general and biochemical);
• liver biopsy;
• analysis of the bone marrow composition.

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

Methods of treatment

Before you begin therapy, you mustdetermine whether iron deposition actually occurs. To do this, use the desferalovoy sample. It is administered intramuscularly, and as a result about 0.5-1.1 mg of iron should be excreted in the urine, and in case of hypochromic, hypersidemic, sideroachrestric, sideroblastic anemia, 5-10 mg.

It is worth noting that the hereditary formdiseases can not be cured. To suppress the gene that began to mutate, often use treatment with high doses of vitamin B6. It is administered in the amount of 100 mg per day. However, the body's reaction here is almost unpredictable. During the treatment of sideroblastic anemia, hemoglobin levels should rise to normal levels in three months. If there is no improvement during this time period, further therapy is meaningless.

Prophylaxis and prognosis

Quite often, the disease results fromlead poisoning. To prevent this, care must be taken with this substance. At reconstruction of old houses it is necessary to observe safety measures, whenever possible moving temporary children. Do not burn or bury lead paints. It is best to scrape or remove them chemically. In addition, you need to regularly monitor the cleanliness of the premises, to comply with building and sanitary standards.

Cure the hereditary form of the diseaseis impossible. To ensure beneficial effects, it is necessary to constantly monitor blood counts, especially hemoglobin levels. This is achieved by regularly passing a course of therapy, which does not allow the disease to develop and maintains a normal human condition.