Medical technology has transformed a once-fatal genetic blood disease in to a chronic illness. Comprehensive treatment models and medical advances have made it possible for many people with thalassemia to experience full, productive lives.
The experts at UPMC's Adult Sickle Cell Disease Program in Pittsburgh, Pa., provide complete and ongoing care for adults with thalassemia.
Treatment strategies depend on the type and severity of the disease.
Blood transfusions represent the primary treatment protocol for those with moderate to severe thalassemia.
Transfusions provide healthy red blood cells with normal hemoglobin. They also help people with thalassemia feel well, participate in normal daily activities, and live to adulthood.
- The vast majority of people with thalassemia do not need regular transfusions at all (transfusion independent).
- Some only need intermittent transfusions. People with alpha (hemoglobin H) or beta thalassemia intermedia may need occasional blood transfusions if anemia becomes severe and causes fatigue.
- A small number of people require regular transfusions (transfusion dependent). Those with beta thalassemia major (Cooley’s anemia) usually require blood transfusions every two to four weeks.
Treatment for transfusion independent people
Adults who do not depend on regular or intermittent blood transfusions to manage their thalassemia usually visit their doctor two to six times a year.
At each visit, the doctor will evaluate:
- Spleen size and activity
- Gallbladder function
- Orthopaedic concerns
Treatment for transfusion dependent people
Transfusion dependent individuals have additional health care needs and require a comprehensive exam once a year.
They also need to have a battery of diagnostic tests before their annual visit.
These tests may include:
- Cardiac assessment (i.e. echocardiogram)
- Endocrine assessment (thyroid, glucose tolerance, bone density, sex hormone levels)
- Hepatic (liver function) panel
- Vision health exam; nutritional screen
- Dental health exam
- Quantitative iron staging (liver biopsy, ferritin)
Based on the results, the health care team assesses how the patient's needs may have changed and adjusts treatment strategies.
For people with transfusion dependent thalassemia, care focuses on the most common complications:
- Excess iron levels — Iron toxicity is the leading cause of death for people with thalassemia in the western world
- Cardiac issues
- Endocrine system failure
- Infectious disease
- Enlarged spleen (splenomegaly)
- Psychosocial concerns
Chelation therapy — desferal infusion
Chronic blood transfusion therapy causes excessive iron buildup.
The spleen, liver, heart, and endocrine systems act as primary storage sites for the large amounts of exogenous (from an outside source) iron received from frequent blood transfusions. The body has no way of excreting this excess iron, which can lead to organ system failure, including the heart and liver.
Doctors must monitor body iron levels to facilitate survival and wellness of the transfusion dependent individual.
Testing for excess iron
At the UPMC Adult Sickle Cell Disease Program, we test iron burden using one of two procedures:
- Ferritin test — Measures gross iron burden or drastic iron level reduction.
- Liver biopsy — Measures iron storage in the liver by taking a direct sample of liver tissue.
Removing excess iron
People who have excessive body iron levels must have chelation therapy to remove the excess iron.
Iron chelation therapy involves daily intravenous infusions of Desferal (deferoxamine). Desferal binds to iron in the body, which then passes out in urine and stool.
Bone Marrow and Cord Blood Transplants
Proteins called human leukocyte antigens (HLA), on the surface of every human body cell, help the immune system determine whether cells belong to foreign invaders like viruses or bacteria, or whether they belong to the individual’s body cells and tissue.
HLA typing plays a critical role when trying to find a transplant donor. Proper HLA matching helps prevent transplant rejection and graft-versus-host disease (GVHD).
Bone marrow transplant
People with Cooley’s anemia, also called beta thalassemia major, are possible candidates for bone marrow transplants. Unfortunately, most people cannot find a perfect match (HLA-identical) donor.
Siblings who share both parents provide the best chance of an appropriate match. Even then, a sibling only represents a 25 percent chance of providing the required perfect match.
Those who overcome the significant hurdle of finding an HLA-identical donor will undergo chemotherapy to remove all, or almost all, of the stem cells from the bone marrow. Doctors then replace these removed cells with the donor stem cells.
In successful transplants, donor stem cells repopulate the recipient’s bone marrow and create new, normal blood cells.
Generally, the younger the person, the better the outcome of bone marrow transplantation; though adults can undergo the therapy also, provided they meet certain criteria.
Cord blood transplant
Cord blood refers to the umbilical cord blood that remains in the umbilical cord and placenta after birth. Cord blood contains an abundance of stem cells.
Cord blood transplants offer some advantages over bone marrow transplants. The biggest advantage is that recipients show a greater tolerance for a partial match (HLA-partial) donor.
As with bone marrow transplants, siblings who share both parents represent the optimal donors.
Parents can arrange to collect and store their newborn’s stem cell-rich cord blood for potential future use.
Other Thalassemia Treatment Options
- Daily folic acid supplements
- Spleen removal (only when necessary)
- Gallbladder removal (only when necessary)
- No iron supplements
Learn More About Thalassemia Treatments
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Contact the UPMC Adult Sickle Cell Disease Program at 412-692-4724 to schedule an appointment.