Blood Disorders
Rare Blood Disorders
Uncommon blood disorders require an uncommon level of care. Our hematologists have specialized expertise in the diagnosis and management of these rare diseases. We are here to help.
Medically reviewed by Brian Jonas, M.D. on Oct. 12, 2023.
Specialists Dedicated to Managing Rare Blood Disorders
A blood disorder is considered rare if it affects fewer than 200,000 people in the U.S. Finding care for a rare blood disorder can be difficult because few specialists have experience evaluating and treating such uncommon diseases.
But at UC Davis Health’s Hemostasis and Thrombosis Center, we have a team of specialists dedicated to managing these life-altering — and sometimes life-threatening — conditions.
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What Are Rare Blood Disorders?
A blood disorder is any disease that prevents your blood from working properly. It could mean you have too many or too few blood cells. Or a blood disorder can affect the way your blood clots, which is a bleeding disorder. Some blood disorders are blood cancers.
There are many types of rare blood disorders, including:
- Bone marrow failure disorders: Your bone marrow does not make enough red blood cells, white blood cells or platelets. Or it produces defective blood cells, which your immune system destroys. Aplastic anemia and paroxysmal nocturnal hemoglobinuria are bone marrow failure conditions.
- Histiocytic diseases: Your body produces too many white blood cells. The cells build up in your organs, such as your liver, spleen or lymph nodes, and form tumors. Langerhans cell histiocytosis and certain types of leukemias and lymphomas are histiocytic diseases.
- Lysosomal storage diseases: Your body does not produce enzymes that process fats and carbohydrates. These substances accumulate in your bone marrow and organs, causing blood problems and other complications. Gaucher disease is a type of lysosomal storage disease.
- Myeloproliferative disorders: Your bone marrow produces too many white blood cells, red blood cells or platelets. Myeloproliferative neoplasms are rare blood cancers. The main forms are polycythemia vera and essential thrombocythemia.
Blood diseases increase your risk of serious health complications, including:
- Bleeding disorders
- Blood cancers
- Blood clots
- Heart attack
- Heart failure
- Irregular heartbeat
- Stroke
Symptoms of Rare Blood Disorders
Symptoms of rare blood disorders vary depending on the type of disease you have. Some symptoms are mild and may resemble common illnesses like the cold or flu. Other symptoms are severe and require immediate medical attention.
Common Symptoms
Talk to your health care provider if you notice any of the following symptoms:
- Abnormal bruising or prolonged bleeding from nosebleeds or small cuts
- Anemia, which may cause fatigue, weakness, shortness of breath and pale skin
- Blood in your urine or very dark urine
- Excessive sweating at night
- Frequent infections, fevers or swollen lymph nodes
- Itchy skin or rash that looks like red or dark pinpoints on your skin
- Unexplained weight loss, reduced appetite or abdominal pain
Emergency Symptoms
Call 911 if you have:
- A cough that produces blood
- Dizziness, a rapid heartbeat or fainting
- Pain or swelling in your legs
- Problems speaking, moving or understanding speech
- Severe chest pain
- Sudden difficulty breathing
- Uncontrollable bleeding
Causes and Risk Factors of Rare Blood Disorders
Most rare blood disorders are the result of genetic mutations, which are abnormal changes to genes. Genes give instructions to cells about how to function. Damaged genes prevent cells from working properly.
Some people have inherited blood disorders, which means they received an abnormal gene from one of their parents. Other people acquire genetic mutations during their lifetime for no known reason.
The following factors may increase your risk of having a blood disorder:
Autoimmune Diseases
Some diseases trigger your immune system to attack and destroy stem cells in your bone marrow that make blood cells.
Medical Treatments
You may be at a higher risk of some blood diseases if you have had chemotherapy (a treatment that uses drugs to destroy cancer cells).
Environmental Exposure
Some chemicals or toxins in your environment, such as those used in certain occupations, increase your risk of blood disorders.
Diagnosing Rare Blood Disorders
Rare blood disorders can be difficult to diagnose. Symptoms may appear late, or symptoms are nonspecific and are initially mistaken for other health conditions. In addition, many hematology centers see very few rare blood disorders and may not have the experience to spot the signs early.
At UC Davis Health, our depth of expertise in rare blood diseases and bleeding disorders is unique in the region. We have on-site diagnostic capabilities and specialists to evaluate and treat any blood condition, no matter how uncommon.
The diagnostic process begins with a medical history and physical exam. We review your symptoms and any past illnesses, injuries or medical treatments. Your provider will also ask questions about your family medical history. During the physical exam, we check for visible signs of a blood disorder such as bruises, pale skin or enlarged lymph nodes.
We may recommend several tests to diagnose a blood disorder, including:
- Complete blood count (CBC): A CBC measures the white blood cells, red blood cells and platelets in your blood. It’s usually the first test to look for a blood disorder.
- Blood chemistry study: We check your blood for substances released by organs. High or low levels of these substances may be signs of disease.
- Flow cytometry: We use this technology to sort, count and examine cells from body fluids such as your blood and bone marrow.
- Bone marrow aspiration and biopsy: A pathologist (specialist who looks for health issues in human tissue and fluids) examines a sample of your bone marrow and a piece of bone for signs of disease.
- Genetic testing: We use genetic testing to examine certain genes for mutations if you are at risk for an inherited blood disorder.
- Imaging exams: Some blood disorders and cancers affect your organs. We may do an ultrasound, MRI or CT scan to look for tumors or problems with your liver, lungs, spleen and other structures.
Treatments for Rare Blood Disorders
At UC Davis Health, a multispecialty team provides comprehensive care for rare blood disorders. We focus on relieving symptoms, preventing dangerous complications and helping you live a better quality of life.
Medication
Medication can alleviate symptoms and reduce the risk of complications. For example, we may recommend low-dose aspirin therapy to reduce the risk of clots in people with bleeding disorders. People with anemia may benefit from iron supplements. Some medicines help your bone marrow to produce more or fewer blood cells.
Transfusion or Exchange
A blood transfusion is a procedure that delivers blood from a healthy donor into your body through a vein in your arm. You may need a transfusion if you don’t have enough blood cells. In some cases, we do an exchange transfusion to remove damaged blood cells before replacing them with healthy blood cells. We may also do procedures to give you healthy platelets or plasma.
Bone Marrow Transplant
A bone marrow transplant, or stem cell transplant, replaces unhealthy stem cells with cells from a donor. Once in your bone marrow, the stem cells produce new healthy blood cells. People with anemia, bleeding disorders or certain blood cancers may need this treatment.
"Rare Disease Database," National Organization for Rare Disorders (NORD), https://rarediseases.org/rare-diseases/
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