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. In 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, and for this it is necessary to apply for help to a specialist in a timely manner.
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 ailment develops as congenital or acquired. At the genetic level, anemia is found mainly in boys.
The disease can also be transmitted by an autosomal dominant pathway. 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 the 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:
- 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.
- 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.
- Purchased. Appears as a result of adverse effects of chemicals. Among them are ethanol, lead, and cyclosirin.
Problems with iron synthesis also arise due to tumor processes in the body. Approximately 1/10 of the patients with sideroblastic anemia suffer from acute leukemia.
Causes of the onset of
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.
The 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 a 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 on which to rely. 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.
It is also practiced to examine the patient's internal organs 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 using 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 which specialist should I 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, may 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.
Treatments for
Before proceeding with 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 should be noted that 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 course of treatment of sideroblastic anemia, the hemoglobin level should rise to normal values within three months. If there is no improvement at this time, further therapy is meaningless.
Prophylaxis and prognosis of
Quite often the disease occurs as a result of lead poisoning. To prevent this, it is necessary to handle this substance with care. When reconstructing 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.
It is impossible to cure the hereditary form of the disease. To ensure favorable effects, it is necessary to 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.