Rare Disease Day is held annually on the last day of February in an effort to raise awareness for rare diseases, improve access to treatment, and increase medical representation. In honor of Rare Disease Day, There Goes My Hero wants to take a closer look at rare blood disorders that affect thousands of patients and families around the world every day. Knowing what to look for could help you or a loved one diagnose and treat the disease as early as possible.
Myelofibrosis is a rare blood condition that causes the body to overproduce progenitor cells, which results in healthy bone marrow being replaced with scar tissue.
While the cause of Myelofibrosis is still undetermined, there are several risk factors that make individuals more susceptible, including old age, exposure to industrial chemicals, exposure to high levels of radiation, and other blood disorders. The symptoms of Myelofibrosis include bone pain, easy bruising or bleeding, fatigue, and shortness of breath.
While there are a variety of different treatments, the most common include regular blood transfusions and bone marrow transplantation. Transfusions help to reduce symptoms and increase the number of red blood cells, but a stem cell transplant from a matching donor can provide a cure for this blood disease.
Paroxysmal nocturnal hemoglobinuria (PNH)
For patients with paroxysmal nocturnal hemoglobinuria, their bone marrow produces defective red blood cells. As a result, their body’s natural defense system attacks and destroys the faulty red blood cells.
If the patient does not have enough healthy red blood cells, their cardiovascular system will not be able to deliver nutrients and oxygen to all the cells in the body. This can result in a number of increased risks and problems, such as anemia, impaired bone marrow function, anemia, and leukemia.
Doctors and scientists have yet to concretely identify the cause of PNH, but they have identified a few effective treatments. For patients with mild symptoms and cases, folic acid and iron supplementation have been shown to increase red blood cell production. Some patients suffering from this rare blood disease have garnered positive outcomes with anticoagulation drugs, thrombolytic therapy, and platelet transfusions, other patients have been prescribed bone marrow transplantation as a curative therapy.
Hairy cell leukemia (HCL)
B-cells are responsible for the production of antibodies, which allow the body to fight off infection and establish immunity. Hair cell leukemia is a rare, slow-growing condition that affects these B cells, causing them to appear abnormal and “hairy.”
Hairy cell leukemia only affects about 1,000 people per year, but it is still important to understand and recognize the most common symptoms of this rare blood disease. Since the condition affects red blood cells, individuals might appear pale, bruise easily, experience shortness of breath, and unexplained weight loss.
Chemotherapy treatments have been proven extremely effective for a majority of patients, but sometimes spleen removal surgery is required as well.
If you would like to learn more about rare blood diseases, or want to join the bone marrow registry, please contact There Goes My Hero at 443-339-4375 or email us at firstname.lastname@example.org.