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.
Pale skin or a pale complexion may occur as a manifestation of sideroblastic anemia in affected individuals. Several factors influence an individual's skin color, including the thickness of the skin, the quantity of blood flowing to the skin, and the amount of melanin present in the skin. Anemia may manifest with paleness in not only the skin but also in mucous membranes like the inner eyelids. The color change that occurs in the skin of anemic individuals is due to the way light reflects off of blood with a poor oxygen concentration.
Poorly oxygenated blood appears as a dark red color inside of the body, and light reflects off of it through the skin with a blue or gray appearance. Oxygen-rich blood is a brighter red inside the body, and light reflects off of it through the skin with a healthy pink appearance. Sideroblastic anemia patients do not have enough hemoglobin in their blood to transport adequate amounts of oxygen. This deficiency causes the patient's blood to have a low or poor oxygen concentration, resulting in paleness or a blue hue to the affected individual's skin.
A common symptom in sideroblastic anemia patients is noticeably increased fatigue. Mild to moderate cases may only cause fatigue upon physical exertion, while more severe cases can present as fatigue even when the individual is at rest. In a healthy individual, nutrients are absorbed from the food they consume, and they are then used at the cellular level in processes that synthesize them into a form of usable energy for the cells called ATP. ATP is the main form of energy cells use to carry out their specialized functions that collectively come together and allow the organs and organ systems around the body to do their jobs.
Individuals with sideroblastic anemia have bone marrow that produces red blood cells that cannot successfully synthesize iron into hemoglobin. Hemoglobin deficiency in the blood is a condition that results in a deprivation of oxygen to cells around the body. Without enough oxygen, the cells cannot effectively carry out the process to synthesize nutrients into ATP. When the cells cannot produce enough ATP, the individual's body has to be selective and preserve the energy produced for cells that perform vital functions, rather than for those used during physical activity.
Some sideroblastic anemia patients have difficulty breathing as a symptom of their condition. The lungs in a healthy individual take in air from the outside of the body and are responsible for removing carbon dioxide from the blood and replacing it with oxygen. For the blood to hold a sufficient amount of oxygen and then successfully deliver it to the tissues and organs around the individual's body, the red blood cells have to contain enough functioning hemoglobin.
Individuals with sideroblastic anemia have red blood cells that do not contain enough hemoglobin to oxygenate tissues around the body the way they should. The brain detects this oxygen deprivation in the bodily tissues, and it sends signals to the individual's lungs to work faster and harder to improve the poor oxygen concentration levels in the blood. As a result of this homeostatic reaction, the patient may experience trouble breathing upon engaging in light physical activity or even at rest as their brain and lungs attempt to compensate for poor oxygenation of the cells and tissues around the body.
Frequent heart palpitations can be a symptom indicative of sideroblastic anemia. Heart palpitations are best described as when an individual feels like their heart is beating too fast, too hard, fluttering, or skipping beats. This sensation can occur in the individual's neck, chest, or throat. While heart palpitations may occur in healthy individuals after the consumption of certain substances or engaging in intense physical activity, frequent episodes while at rest or engaging in normal movement can be a warning sign of sideroblastic anemia.
The reason for this manifestation in affected individuals is due to the same mechanism that causes breathing difficulties. The brain detects poor oxygen delivery to bodily tissues, and it signals both the heart and lungs to work faster and harder to oxygenate the blood better and quicker. When the heart is beating abnormally fast, it is commonly felt in the form of heart palpitations. Because this homeostatic reaction does not actually compensate for the shortage of hemoglobin in the blood, it is a symptom that frequently occurs until the deficiency of hemoglobin is corrected.