Rare Blood Disorders

What you need to know about rare blood disorders

• Rare blood disorders occur in a small number of people. They can affect red or white blood cells or platelets, making it difficult to transport oxygen and prevent infections.
• Some disorders, such as hemophagocytic lymphohistiocytosis, can be life-threatening. At a program such as ours that specializes in rare conditions, you can access comprehensive testing and treatment.
• Our team includes fellowship-trained hematologist oncologists. These doctors have additional training in treating blood disorders and cancer. It’s important to know that having a blood disorder is not the same as having cancer.
• Some conditions, such as Castleman disease, can become cancerous. It’s important to receive care from doctors who specialize in rare disorders. We have the experience to manage the risk of complications.

How to talk to your doctor about rare blood disorders

Learning that you have a rare blood disorder can be overwhelming. Our hematologist oncologists are here to help. We encourage you to ask a lot of questions. No subject is too small to discuss.

Feel free to ask us about:

• Further testing that may be necessary to check for signs of complications
• Genetic testing and counseling, which may help guide treatment decisions and let other family members know whether they are at risk
• Treatments and how often you need them
• Cancer risks, if any, and tests or treatments to help you manage them

You are welcome to bring loved ones with you to appointments. They can help you remember details about your care plan and make important decisions.

Rare blood disorders we treat

Our expertise spans a broad range of rare blood disorders, including:

Castleman disease and related disorders

Castleman disease requires immediate care. Our team stands ready to provide advanced blood testing and a personalized care plan in one visit, whenever necessary.

Castleman disease occurs when cells build up in the lymph nodes, which filter lymphatic fluid and trap harmful substances. Related disorders may also affect one or more parts of the lymph system.

Some forms of this disease can cause severe infections and organ failure. Castleman disease also raises your risk of non-Hodgkin lymphoma.

We offer innovative treatments, including drugs that disrupt specific activities within a cell. This option is available to people with multicentric Castleman disease, which affects multiple areas of the lymph system.

Gaucher disease and other lysosomal storage disorders

Our center is one of few in South Texas with experts who specialize in diagnosing and treating Gaucher disease.

Lysosomal storage disorders occur when your body cannot produce certain enzymes (proteins that cause chemical reactions). We deliver therapies that restore enzyme levels and lower your risk of complications, such as bone and joint problems.

With Gaucher, your body is missing a gene that controls how your body breaks down fats and sugars. Instead, these substances build up in your spleen, liver or bone marrow.

There are three types of Gaucher disease that each cause different problems. The buildup of substances can cause inflammation, anemia, bone loss, fatigue and neurological issues.

Hemophagocytic lymphohistiocytosis (HLH)

HLH is a life-threatening immunodeficiency. With HLH, the immune system attacks organs, including the liver, brain or bone marrow.

This genetic condition is often passed down in families. However, it sometimes develops in people who have unrelated medical issues, like cancer or rheumatologic diseases, that strongly activate their immune system.

Our hematologist oncologists are available around the clock to diagnose this challenging condition and deliver the therapies you need. Our experienced rare blood disorder experts perform a thorough evaluation to catch signs that can be easy to miss. We then quickly determine the next steps in your care.

Langerhans cell histiocytosis (LCH)

With LCH, cells that usually help you fight infection (Langerhans cells) build up and damage your organs. LCH often affects children, but adults, especially individuals with a history of using tobacco, are at risk.

We use molecular testing to examine abnormal changes in proteins within the Langerhans cells. This information enables us to deliver appropriate care right from the start.

Paroxysmal nocturnal hemoglobinuria (PNH)

In people with PNH, red blood cells break apart and release hemoglobin, the substance that transports oxygen to organs, into your urine. Symptoms come on suddenly and often occur at night. PNH typically affects adults, particularly people with certain rare bone marrow disorders, such as aplastic anemia and myelodysplastic syndrome (MDS).

Having years of experience caring for people with PNH helps us identify patients at risk and make a rapid diagnosis. To deliver efficient care, we coordinate with other UT Health San Antonio specialists, including hematopathologists, who ensure an accurate diagnosis.

Primary immunodeficiency and related disorders

Primary immunodeficiency occurs when a person is born without a fully functioning immune system. The immune system usually protects your body from infection. Other immunodeficiency disorders can arise as complications of medical conditions, such as leukemia. Or they can develop after taking certain medications, like chemotherapy for cancer.

We offer treatments to help people who have immunodeficiency disorders lower their risk of infections. One such treatment is immunoglobulin (Ig) replacement therapy. You receive injections of purified plasma from a healthy donor to boost your blood’s disease-fighting properties.