What’s sideroblastic anemia?

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Sideroblastic anemia is a blood disorder where red blood cells do not develop normally, resulting in ring sideroblasts in the bone marrow. It can be inherited or acquired, with alcohol abuse being the most common cause. Treatment includes vitamin B6 and blood transfusions.

Sideroblastic anemia is a blood disorder in which red blood cells fail to develop normally, resulting in the formation of what are known as ring sideroblasts in the bone marrow, along with general symptoms of anemia, such as fatigue and pale skin. A ringed, or ring sideroblast, is an immature red blood cell with an iron ring around the nucleus. Sideroblastic anemia is associated with a number of different diseases and can be inherited, so that a person is born with the condition, or it can be acquired later in life. It can be part of a myelodysplastic syndrome, in which the production of blood cells in the bone marrow becomes abnormal with the risk of developing into leukemia or cancer of the blood and bone marrow. Medications are a common cause of sideroblastic anemia, particularly alcohol, as are some antibiotics, chemotherapy treatments, and heavy metals such as lead.

Hemoglobin, the oxygen-binding molecule inside a red blood cell, consists of a portion of globin, which is made up of protein, and a portion of heme, which normally contains iron. In sideroblastic anemia, immature red blood cells in the bone marrow fail to properly absorb iron into the heme part of hemoglobin, resulting in the iron being deposited in the substance of the cell, characteristically forming a ring around the nucleus. This is known as sideroblastic ring and the cells are referred to as ring or ring sideroblasts.

Most cases of sideroblastic anemia are acquired rather than inherited, with alcohol abuse being the most common cause overall. Other causes include drugs such as isoniazid, used to treat tuberculosis, copper and vitamin B6 deficiencies, and lead or zinc poisoning, as well as myelodysplastic syndromes and other bone marrow diseases. Hereditary forms of the condition are more common in men, and mild cases can go undetected until around age 40 or older.

Sideroblastic anemia can be diagnosed by looking at the bone marrow under a microscope, where ringed sideroblasts can be seen. Some of the cells in the general circulation will usually appear pale, lacking the typical red color associated with normal amounts of hemoglobin. In inherited forms of anemia, the cells may also be smaller than usual.

Hereditary sideroblastic anemia can sometimes be treated with vitamin B6, with lifelong treatment if the disease responds. While some of the causes of acquired sideroblastic anemia can be reversed, such as substituting some antibiotics for others or stopping alcohol consumption, this is not always possible. Vitamin B6 treatment may also work in some cases of acquired anemia, and blood transfusion may sometimes be given.

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