What is Refractory Anemia With Ring Sideroblasts?
Anemia is a condition where there’s a lack of hemoglobin, which reduces the blood’s ability to carry oxygen. Various things can cause this – some are due to medical procedures, others are genetic or due to chronic inflammation, impaired production of globin chains, or other acquired forms. Certain genes tied to iron metabolism could also be responsible, leading to serious inherited problems with iron and the storage of iron. This trapped iron forms a “ring” around the early red blood cell. We didn’t understand this until the 1960s when it got recognized as a type of anemia. These inherited diseases include sideroblastic anemia, which can come in various forms.
A particular type of anemia, called refractory anemia with ringed sideroblasts, is a subtype of a disorder known as myelodysplastic syndrome (MDS). This disorder features anemia and an increase of ringed sideroblasts in the marrow by at least 15%. Usually, patients show up with normal color and size of red blood cells but have too many immature red blood cells in the body. Often, the level of hemoglobin is generally in the range of 9 to 12 g/dL, but it can be lower. The red blood cells may show variability in their shape and color. The body even overproduces platelets and neutrophils with different anomalies in red blood cell production. However, the development of specific white blood cells and platelets is generally normal and usually seen in most cases.
What Causes Refractory Anemia With Ring Sideroblasts?
Sideroblastic anemia can be caused by various genetic mutations, mainly due to an issue with making hemoglobin. Congenital sideroblastic anemia (CSAs) are inherited conditions caused by dysfunction in the mitochondria due to defects in heme production, iron creation, or general mitochondrial protein production. Multiple enzymes, involved in an ancient mitochondrial pathway, work together in this complex process. One common form of CSA is X-linked sideroblastic anemia, XLSA, typically caused by missense mutations in ALA synthase or ALAS2, playing the initial role in heme creation.
However, many cases of refractory anemia with ringed sideroblasts will have one of two paths: MDS (myelodysplastic syndromes) with a normal lifespan or MDS that progresses to a more severe form of MDS or AML (acute myeloid leukemia). The majority of cases fall into the first category. Only 7-10% of all RARs (Refractory Anemia with Ringed Sideroblasts) patients develop more severe conditions. A patient’s condition at the time of diagnosis is vital, as this will affect the progression of the disease.
Risk Factors and Frequency for Refractory Anemia With Ring Sideroblasts
Sideroblastic anemia can affect a wide range of people, from newborns (congenital) to individuals over 40 years old.
Signs and Symptoms of Refractory Anemia With Ring Sideroblasts
An examination for this condition involves a comprehensive physical check-up that includes a variety of areas. This includes looking at the patient’s mucous membranes and the whites of their eyes for signs of paleness, listening to their heart and lungs, examining their fingernails for changes that could be due to anemia, and looking for other possible reasons for anemia. Doctors might also review lifestyle factors such as any social, smoking or drinking habits, exposure to harmful substances at work, and any past surgeries.
Another crucial step is to check for any history of cancer, hereditary blood diseases, and other unidentified causes in the patient’s past medical records. Health professionals must ensure a thorough evaluation to make the correct diagnosis.
Testing for Refractory Anemia With Ring Sideroblasts
Along with a complete medical history and physical examination, additional lab tests are often necessary to thoroughly assess the situation. These tests may include a full blood test that reviews cell breakdown and chemical inputs, as well as checks for deficiencies in vitamins like B12, folate, and copper.
The patient’s previous history with gastrointestinal issues is also crucial to evaluate as it can directly influence anemia; many causes of anemia are tied to the gut’s ability to absorb necessary nutrients.
If anemia continues, it’s important to take a closer look at the blood cells using a test called a peripheral smear. In some cases, a bone marrow biopsy might be needed to get a more comprehensive view of the issue.
Treatment Options for Refractory Anemia With Ring Sideroblasts
Sideroblastic anemia, like many medical conditions, often requires treatment to tackle its underlying causes before any significant improvements can be noticed. Some patients may do well with a “watch and wait” approach, but a new option is now available: a drug called azacytidine (AZA). AZA can be administered either under the skin (subcutaneously) or directly into a vein (intravenously) for seven days straight, followed by a 21-day break, making one treatment cycle last 28 days in total. This particular therapy may be suitable for patients aged 20 years or older who have been diagnosed with a specific type of sideroblastic anemia (RARS) and have a low neutrophil count, a type of white blood cell.
On the other hand, if doctors can’t pinpoint a specific cause for the sideroblastic anemia, just monitoring the situation without immediate treatment (“watch and wait”) is also an acceptable option for patients and their doctors.
What else can Refractory Anemia With Ring Sideroblasts be?
For patients possibly having this condition, it is crucial to closely examine their cell structures. The presence of abnormal cell growth in around 7-10% of their red blood cells can confirm the diagnosis. However, if the abnormal growth is found in more than one type of blood cells, a different naming system that takes into account multiple types of cells should be used.
What to expect with Refractory Anemia With Ring Sideroblasts
Sometimes a patient may have symptoms of a condition called RARs, but don’t show an increase in a specific type of cell called a blast in their bone marrow. Very occasionally, a particular type of cell, known as a blast with an Auer rod, may be found. Depending on how many blasts are found, a patient might be classified as having a more advanced form of the condition, known as “RARS-2”. This could mean the patient’s illness is likely to worsen over time.
Another important aspect to consider is the mutational status of a gene known as SF3B1, which has been identified in these cases. Ultimately, the number of blast cells will give an indication about the patient’s overall outlook. The higher the number of these cells, the greater the likelihood of the patient developing a serious form of blood cancer called acute myeloid leukemia (AML).
Possible Complications When Diagnosed with Refractory Anemia With Ring Sideroblasts
Problems resulting from RARs can range from hardly noticeable symptoms to a rapid escalation to AML, a type of blood and bone marrow cancer. The amount of immature white blood cells (blasts) and how well a person responds to available treatments will often dictate their overall survival rate. It’s also important to note that complications related to the body’s blood vessels and blood clots are common in these patients.
