Sideroblastic anemia: symptoms, causes, diagnosis, and treatment

Sideroblastic anemia is characterized by a disease in which there is an inappropriate use of iron for the synthesis of hemoglobin, even though there are sufficient amounts of iron to produce it. As a result, this metal accumulates in the mitochondria of erythroblasts, giving rise to ring sideroblasts.

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

Treatment depends on the severity of the disease, with folic acid and vitamin B6 being generally administered and in more severe cases, it may be necessary to perform a bone marrow transplant. Understand how a bone marrow exam is done .

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Possible causes

Generally, the causes of sideroblastic anemia are inherited, in which the baby is born with the disease, due to mutations in a gene. In addition, the disease can also be acquired due to several factors, such as chronic alcoholism, rheumatoid arthritis, lead or zinc poisoning, toxicity caused by some medications, hemolytic anemia, nutritional deficiencies of vitamin B6 and autoimmune diseases.

Sideroblastic anemia can also manifest itself secondarily to other bone marrow diseases, such as myelodysplasia, myeloma, polycythemia vera, myelosclerosis and leukemia.

Most hereditary sideroblastic anemias appear in childhood, however, there may be milder cases of hereditary sideroblastic anemia whose symptoms only begin to be evident in adulthood.

What are the signs and symptoms

The most common symptoms that usually manifest in people suffering from sideroblastic anemia are fatigue, decreased ability to perform physical activities, dizziness, weakness, tachycardia and pallor.

In sideroblastic anemia, hemoglobin levels generally range from 4 to 10 g / dL.

How the diagnosis is made

The diagnosis consists of a physical examination, evaluation of the person’s clinical history and a blood count, in which it is possible to observe erythrocytes with different shapes and some of them may appear dotted. Blood iron levels may also be elevated.

Sideroblastic anemia is diagnosed when, on a bone marrow exam, five or more ring-shaped iron granules are seen in the sideroblasts around the mitochondria.

What is the treatment

Reducing alcohol consumption, improving diet and supplementing with Vitamin B6 and folic acid may be enough to reverse this situation.

In more severe cases, a bone marrow transplant may be necessary.

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