Sideroblastic anemia

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Sideroblastic Anemia

Sideroblastic anemia (pronounced: sid-er-o-blas-tik uh-nee-mee-uh) is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. In this condition, the body has enough iron, but it cannot incorporate it into hemoglobin, which carries oxygen in the blood.

Etymology

The term "sideroblastic anemia" is derived from the Greek words "sidero" meaning iron, "blastos" meaning germ, and "anemia" meaning lack of blood. It refers to the presence of ringed sideroblasts, or abnormal red blood cells, in the bone marrow.

Symptoms

Symptoms of sideroblastic anemia can vary but often include fatigue, weakness, and shortness of breath (known as anemia symptoms). Other symptoms may include an enlarged liver or spleen (hepatosplenomegaly), abnormal heart rhythm (arrhythmia), and heart failure.

Causes

Sideroblastic anemia can be either inherited (congenital) or acquired. The inherited form is caused by mutations in certain genes involved in heme synthesis. The acquired form can be caused by exposure to certain drugs, alcohol, lead, or by conditions such as rheumatoid arthritis, kidney disease, or cancer.

Diagnosis

Diagnosis of sideroblastic anemia typically involves blood tests, including a complete blood count (CBC) and iron studies. A bone marrow biopsy may also be performed to confirm the presence of ringed sideroblasts.

Treatment

Treatment for sideroblastic anemia depends on the underlying cause. It may include stopping exposure to potential triggers, such as certain drugs or alcohol, and treating any underlying conditions. In some cases, blood transfusions or iron chelation therapy may be necessary.

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