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It is the malfunction of oxygen transport in the blood caused by poor iron absorption

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Sideroblastic anemia is a condition in which iron is not properly used for the production of hemoglobin, accumulating in the mitochondria that circulate the nucleus of erythroblast cells (red blood cells that still retain their cell nucleus).

This condition can occur even when a person ingests adequate amounts of iron and causes ineffective production of hemoglobin, a protein whose main function is to transport oxygen.

Sideroblasts are atypical and abnormal erythroblasts with iron granules accumulated in the mitochondria that surround the nucleus. Normally, sideroblasts are present in the bone marrow and enter the circulation after they mature into a normal erythrocyte. The presence of sideroblasts by itself does not define sideroblastic anemia. Only the diagnosis of ringed (or ringed) sideroblasts characterizes sideroblastic anemia.

Symptoms

Causes of Sideroblastic Anemia

The causes of sideroblastic anemia can be hereditary, acquired or linked to bone marrow problems.

Among the main causes of sideroblastic anemia, the following stand out:

Hereditary

• X-linked sideroblastic anemia (ASLX);
• Sideroblastic anemia caused by mutations in the SLC25A38 gene (second most common cause);
• Associated with Wolfram Syndrome (genetic disorder).

Acquired

• Chronic alcoholism (most common cause);
• Inflammatory conditions: rheumatoid arthritis;
• Lead or zinc poisoning;
• Lead: applications, risks and prevention
• Use of medications such as chloramphenicol, cycloserine, isoniazid;
• Hemolytic anemia;
• Nutritional deficiencies of copper or vitamin B6, especially in malabsorption syndromes;
• Autoimmune diseases such as systemic lupus erythematosus and autoimmune hypothyroidism;
• Hypothermia and hemodialysis.

bone marrow diseases

Sideroblastic anemia can also occur and form secondary to other bone marrow diseases, including:

• myelodysplasia
• myeloma
• polycythemia vera
• myelosclerosis
• Leukemia

Diagnosis

Sideroblastic anemia is diagnosed when there are five or more ring-shaped iron granules around the mitochondria. But in addition, there is suspicion of sideroblastic anemia when there are high levels of iron associated with malabsorptive syndromes, alcoholism, family history of anemia, bone marrow disease, chronic inflammation, work with exposure to lead or zinc, among others.

Treatment

Sideroblastic anemia is often such a serious condition that it may require blood transfusion.

In some cases, there is improvement in the condition after the use of pyrodoxine (vitamin B6). In more severe conditions, bone marrow transplantation may be necessary. Therapeutic phlebotomy (taking a quantity of blood) can be used to manage iron overload.