Many people know that anemia is a rather dangerous disease. There are many varieties of this disease, and each of them is harmful to human he alth. 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 it is necessary to seek help from a specialist in a timely manner.
Concept
Sideroblastic anemia differs from other types of the disease by 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 congenital or acquired. At the genetic level, anemia occurs mainly in boys.
The disease can also be transmitted in an autosomal dominant manner. 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 there is too much ironthe work of the liver, kidneys and heart muscle is disrupted.
Types of diseases
Anemia of this type is subdivided according to the degree of severity, as well as the reason for the appearance and clinical picture. There are several types of sideroblastic anemia:
- Hereditary. The disease is inherited as a result of a gene mutation. This pathology is caused by an anomaly of the metabolic process with the participation of vitamin B6 and aminolevulinic acid. The disease makes itself felt after birth or during adolescence.
- Innate. This form is isolated separately, although to some extent it belongs to the hereditary species. It is characterized by a high content of erythrocyte coproporphyrin.
- Purchased. Appears as a result of the adverse effects of chemicals. Among them, ethanol, lead, cyclosirin are isolated.
Problems with iron synthesis also occur due to tumor processes in the body. Approximately 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 protoporphyirin, 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.
Acquired form of sideroblastic anemia occurs due to the fact that the body does not receive the necessary substances in sufficient quantities. There are situations when the desired compounds are suppressed by the medications the person is taking.
The body is depleted by the effects of alcohol. Anemia can occur due to lead poisoning or the use of 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 detecting this disease is quite difficult, 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 unrealistic to diagnose this disease. 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 is already causing hematological symptoms. In order not to be mistaken, it is necessary to confirm the diagnosis. This is done through a macroscopic examination of the bone marrow.
In order to minimize the risk, a biopsy is necessary. It is this procedure that is the most effective way to determine sideroblastic anemia. It is carried out as follows: the biopsy is preliminarily stained with a special substance, and if unsynthesized iron is detected, characteristic compounds become visible.
Which specialist should I contact?
As already noted, the symptoms of sideroblastic anemia are practically not determined. Clinical pictureis also missing, and because of this, certain difficulties arise. If a person feels fatigue, weakness in the body, then, as a rule, he turns to a therapist. This is a doctor who, if anemia is suspected, redirects the patient to a hematologist who performs an examination.
First, the specialist finds out the general condition of the patient, is interested in lifestyle, the presence of bad habits, a list of previous diseases, 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.
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.
Treatments
Before starting therapy, it is necessary to determine whether iron deposition is really occurring. For this, a desferal test 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 with hypochromic, hypersideremic, sideroachrestic, sideroblastic anemia - 5-10 mg.
It is worth noting that the hereditary form of the disease can be curedimpossible. 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 within 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 when handling this substance. When reconstructing old houses, precautions must be taken, if possible, temporarily relocating children. Do not burn or bury paint 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 favorable effects, it is necessary to constantly monitor blood counts, especially hemoglobin levels. This is achieved by regularly undergoing a course of therapy that does not allow the disease to develop and maintains a normal human condition.
