Sideroblastic anemia: what it is, symptoms, causes and treatment

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Sideroblastic anemia is characterized by the inappropriate use of iron for the synthesis of hemoglobin, which causes iron to accumulate inside the mitochondria of erythroblasts, giving rise to ringed sideroblasts, which are visualized in the analysis of blood under the microscope.

This disorder may be related to hereditary factors, acquired factors or due to myelodysplasias, leading to the occurrence of symptoms characteristic of anemia, such as tiredness, paleness, dizziness and weakness.

Treatment depends on the severity of the disease, usually with folic acid and vitamin B6, and in more severe cases, a bone marrow transplant may be necessary.

Possible causes

Sideroblastic anemia can be congenital, which is when the person is already born with the change, or acquired, in which sideroblasts appear as a result of some other situation. In the case of congenital sideroblastic anemia, it corresponds to a hereditary genetic alteration, linked to the X chromosome, which due to mutations promotes changes in mitochondrial metabolism, resulting in the development of this type of anemia.

In the case of acquired sideroblastic anemia, the main cause is myelodysplastic syndrome, which corresponds to a group of diseases in which there is progressive bone marrow failure resulting in the production of immature blood cells. Other possible causes of sideroblastic anemia are:

  • Chronic alcoholism;
  • Rheumatoid arthritis;
  • Exposure to toxins;
  • Vitamin B6 or copper deficiency;
  • Use of some medications, such as chloramphenicol and isoniazid;
  • Autoimmune diseases.

In addition, this type of anemia can be a consequence of other blood and bone marrow-related changes, such as myeloma, polycythemia, myelosclerosis, and leukemia.

main symptoms

The symptoms of most cases of hereditary sideroblastic anemia manifest in childhood, however, there may be milder cases of hereditary sideroblastic anemia whose symptoms only start to be noticeable in adulthood.

In general, the symptoms of sideroblastic anemia are the same as those of a common anemia, in which the person may experience fatigue, decreased ability to perform physical activities, dizziness, weakness, tachycardia and pallor, in addition to being more prone to bleeding and infections. .

To know your risk of having anemia, select the symptoms you may be experiencing below:

How the diagnosis is made

The diagnosis of sideroblastic anemia must be made by the hematologist or general practitioner by evaluating the signs and symptoms presented by the possible and performing a blood count in which it is possible to observe erythrocytes with different shapes and some of them may appear speckled. In addition, the reticulocyte count test, which are immature red blood cells, which are normally present in this type of anemia, is also performed.

It is also recommended by the doctor to measure iron, ferritin and transferrin saturation, as they can also be altered in sideroblastic anemia. In some cases, the doctor may also indicate the performance of an exam to evaluate the bone marrow, as in addition to helping to confirm sideroblastic anemia, it also helps to identify the cause of the change.

How is the treatment done?

The treatment for sideroblastic anemia should be done according to the doctor’s indication and the cause of the anemia, and supplementation with vitamin B6 and folic acid may be indicated, in addition to reducing the consumption of alcoholic beverages. In case the anemia is due to the use of medication, discontinuation of its use may also be indicated.

In the most serious cases, in which anemia is a consequence of changes in the functioning of the bone marrow, a transplant may be indicated by the doctor. Understand how a bone marrow transplant is done.

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Consult a Doctor | Translated by User2937

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Isenção de responsabilidade – (versão em português): Este conteúdo foi preparado com base em informações de pesquisas, publicações adicionais ou no trabalho de tradução/verificação de um editor voluntário deste conselho web. Este é um serviço sem fins lucrativos. É altamente recomendável que todos os detalhes e informações publicadas sejam verificadas cuidadosamente. Nunca permitimos recomendações de medicamentos, bulas ou qualquer orientação sobre medicamentos. Nunca permitimos a política partidária como base para checagem. Para mais informações, leia nossos termos.

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