Many people know that anemia is a rather dangerous disease. There are many varieties of this ailment, and each of them is harmful to 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 to prevent complications, and for this you need to seek help from a specialist in a timely manner.
The concept
Sideroblastic anemia differs from other types of the disease in a reduced concentration of iron in red blood cells. The fact is that the bone marrow does not involve 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 in an autosomal dominant way. This anemia is called Pearson's 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 work of the liver, kidneys and heart muscle is disrupted.
Types of disease
Anemia of this type is divided according to severity, as well as due to the appearance and clinical picture. There are several types of sideroblastic anemia:
- Inherited. The disease is inherited as a result of a gene mutation. This pathology is caused by an abnormality in the metabolic process with the participation of vitamin B6 and aminolevulinic acid. The disease makes itself felt after birth or in adolescence.
- Congenital This form is isolated separately, although to some extent it refers to the hereditary species. It is characterized by a high content of red blood cell coproporphyrin.
- Acquired. Appears as a result of the adverse effects of chemicals. Among them, ethanol, lead, cyclosirin are isolated.
Problems with the synthesis of iron also arise due to tumor processes in the body. About 1/10 of patients with sideroblastic anemia suffer from acute leukemia.
Causes of the disease
The main reason for the development of this disease is 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 also involved in the creation.
The acquired form of sideroblastic anemia occurs due to the fact that the necessary substances in sufficient quantities do not enter the body. There are situations when the necessary compounds are suppressed by medicines that a person takes.
The body is depleted as a result of exposure to 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, a disorder of the immune system and the development of tumor processes can serve as the cause of the disease .
Diagnosis of sideroblastic anemia
The process of identifying this disease is quite complicated, since it is almost asymptomatic. Moreover, there is no pronounced clinical picture on which to rely. If you look only at the external signs, then diagnosing this disease is unrealistic. However, there is one way to detect sideroblastic anemia - a blood test.
Examination of the patient’s internal organs is also practiced to find iron deposits. But by this time, the element is already causing hematological symptoms. In order not to make a mistake, 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 is necessary. 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 detected, characteristic compounds become visible.
Which specialist should I contact?
As already noted, the symptoms of sideroblastic anemia are practically not determined. The clinical picture is also absent, and because of this, certain difficulties arise. If a person feels fatigue, weakness in the body, then, as a rule, he turns to the therapist. This doctor, with suspected anemia, redirects the patient to the hematologist who conducts the examination.
First, the specialist finds out the general condition of the patient, is interested in the lifestyle, the presence of bad habits, the list of past illnesses, etc. If the doctor considers it necessary, he will conduct several studies. These include:
- blood test (general and biochemical);
- liver biopsy;
- analysis of the cellular composition of the bone marrow.
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 genetics. This doctor will determine if there is a hereditary type of sideroblastic anemia. You may also need to consult a gynecologist, urologist or proctologist.
Treatment methods
Before proceeding with therapy, it is necessary to determine whether iron deposition actually occurs. 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 with hypochromic, hypersidemic, siderohrestichesky, sideroblastic anemia.
It is worth noting that the hereditary form of the disease cannot be cured. To suppress a gene that has begun to mutate, treatment with high doses of vitamin B6 is often used. It is administered in an amount of 100 mg per day. However, the reaction of the body here is almost unpredictable. In the process of treating sideroblastic anemia, the hemoglobin level should rise to normal levels in three months. If no improvement has occurred during this period of time, further therapy is pointless.
Prevention and prognosis
Quite often, the disease occurs as a result of lead poisoning. To prevent this, care must be taken with this substance. When reconstructing old houses, precautions must be taken, temporarily relocating children if possible. It is forbidden to burn or bury paints containing lead. It is best to scrape or remove them chemically. In addition, you need to regularly monitor the cleanliness of residential premises, comply with construction and sanitary standards.
It is impossible to cure the hereditary form of the disease. To ensure beneficial effects, it is necessary to constantly monitor blood counts, especially hemoglobin levels. This is achieved by regularly taking a course of therapy, which does not allow the disease to develop and maintains a normal human condition.