When an individual's bone marrow does not produce enough healthy red blood cells, they have a condition called anemia. Sideroblastic anemia occurs when an individual's bone marrow produces a type of abnormal red blood cells called sideroblasts. The sideroblasts are unable to synthesize iron into a compound called hemoglobin, which allows healthy red blood cells to carry and deliver oxygen to the different tissues around the body. As a result of this malfunction, iron builds up in these sideroblasts and can be toxic to other organs.
Additionally, the shortage of hemoglobin causes the patient's tissues to become deprived of a sufficient amount of oxygen. As a result, they are unable to carry out their normal functions. Sideroblastic anemia can be caused by cellular DNA mutations inherited from one's parents, or it may be acquired. Although the causes and treatments may differ between each type, the symptoms that manifest in this condition are consistent.
Enlarged Spleen And Liver
A common symptom seen in sideroblastic anemia patients is an enlarged spleen and liver. In a healthy individual, the liver and spleen both play a critical role in the filtering, destruction, and recycling of old or damaged red blood cells. The spleen collects old and damaged red blood cells, and the liver extracts hemoglobin from the red blood cells that have been broken down to recycle it for later use. The sideroblasts in the blood of individuals with sideroblastic anemia do not function as red blood cells, and they do not have the average lifespan of healthy red blood cells.
The result of this malfunction is an accumulation of these broken down cells in the spleen, and an accumulation of iron in the liver. When these substances inappropriately build up in the spleen and liver, both organs become enlarged or swell. Because of the higher rate of red blood cell death in sideroblastic anemia patients, the liver and the spleen cannot break down and recycle red blood cell components as fast as they are collecting. This dysfunction manifests as a palpable enlargement of the mid-abdominal region where the patient's liver and spleen are located.